Epigenetic Disorders Paper

Epigenetic Disorders Paper
In the paper "Epigenetic Factors and Autism Spectrum Disorders," epigenetics is defined as the
study of the mechanisms in which genes are silenced or expressed as various phenotypes. Autism
and autism spectrum disorders (ASDs) are considered complex neurodevelopmental disorders. The
article primarily focuses on the etiology and the epigenetic effects that possibly play a role in the
development of the disorders. In the case of monozygotic twins, if one child shows symptoms of
autism, there is a great likelihood both will show symptoms, which proposes a possible genetic link.
However, the diagnosis of autism and ASDs is complex and the symptoms can vary, even for
identical twins. Symptoms of autism and ASDs are also often comparable to symptoms ... Show
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UBE3A, GABA receptor genes, and RELN are among some of the genes explored in the article that
are epigenetically regulated and express phenotypes in neurodevelopmental disorders that are
related to autism and ASDs. Epigenetic regulation includes histone modification and both DNA
methylation and DNA demethylation. In histone modification, DNA surrounds the proteins that can
be phosphorylated or acetylated, or likewise, dephosphorylated or deacylated, which can cause the
transcriptional process to be enhanced or prevented. DNA methylation and demethylation can add or
remove a methyl group to a gene causing it to be either expressed or silenced. These effects can
cause a gene to exhibit varying phenotypes. While some neurodevelopmental disorders have a clear
genetic cause, or genetic etiology, autism can have varying phenotypic expression on different
genes, as well as varying levels of expression. This shows that external factors affecting epigenetic
regulation may play a role in how particular genes are expressed. The article also explores the theory
of "intragenomic conflict", and the influences of parent–of–origin genetic inheritance on autism and
... Get more on HelpWriting.net ...

Essay On Autism
Mice with an extra autism gene have more anxiety and seizures
A recent study has found that a gene linked to autism caused mice in their experiments to have more
seizures and anxiety. Dr. Jill Silverman is an assistant professor of psychiatry at the University of
California, Davis. She led a team of researchers to study a specific gene that might be linked to
autism.
What was the gene that they studied?
This gene the researchers studied was called UBE3A. This gene is found in a lot of tissues including
skin, stomach lining, and the brain. UBE3A can code several different proteins. One protein is
actually an enzyme that cleans up other proteins by tagging them for destruction. This is helpful for
cells to get rid of proteins they no ... Show more content on Helpwriting.net ...
Doctors call this syndrome the Dup15q syndrome. This syndrome helps describe the trend we see
whenever someone has two or more copies of this chromosome. When someone has this, they tend
to also have many neurologic symptoms including anxiety, developmental delay, and seizures. The
syndrome also seems to affect speech and motor functions. A lot of these people have problems with
coordination and muscle tone.
How did they study this in mice?
To study this gene further, Dr. Silverman and her team developed genetically manipulated mice.
They specifically bred their mutant mice so that they would produce a large amount of protein of the
longest type possible in their brain. Particularly, they saw that these mice overexpressed the UBE3A
protein levels especially in the excitatory neurons of the cortex and hippocampus. The researchers
then compared their mutant mice with their normal mice to try and detect behavioral differences.
What did the research team find?
Mice overexpressing UBE3A seemed to be more anxious.
The team noticed mice with more UBE3A seemed to be more anxious. These mice were less likely
to go from dark areas of light, which might be because they are more nervous about being out in the
open and exposed. The mice were also less likely to explore their housing cages. The researchers

had put extra chambers to test the exploration behavior in their mice, and they found their mutant
mice were

Angelman Syndrome Essay
angelman syndrome also known as "happy puppet syndrome", it is a genetic disorder that was
named after the first doctor who discovered it in 1965. According to (medicinenet) AS affects 1 in
12,000 to 20,000 people. Usually it is not found until parents find developmental delays. The
general characteristics of a person who has AS are mentally challenged, pale, deep set eyes, long
chin, a puppet like gait, and an absurd laugh. Angelman syndrome is a genetic disorder that
primarily affects the nervous system. AS is the loss of the normal maternal contribution to a region
of chromosome 15, mostly commonly by deletion of a segment of that chromosome. Characteristics
cause problems such as developmental disabilities and neurological problems, such

Angelman Syndrome Research Paper
Two hundred and eighteen million dollars are spent on Autism each year, but for a Syndrome called
Angelman Syndrome less than five hundred thousand dollars are spent. Louie is a young thirteen
year old male from davidson county, he has Angelman Syndrome, also known as AS, or "Puppet
children". AS is a rare congenital disorder characterized by mental disability and a tendency toward
jerky movement, caused by the absence of certain genes that are normally present on the copy of
chromosome 15, inherited from the mother. Most kids with Angelman Syndrome don't sleep well,
but Louie sleeps all on his own for a decent amount of time. His parents have to have someone that
sleeps at the house so that they can help out with Louie. She watches him twenty hours a week.
Even though Louie has this disorder he is still doing many things just like children who don't have
the syndrome, Louie is a great kid! One of the cases of AS was first found in the US in the early
1980's. The University of Florida became one of the first main research groups under the
supervision of Dr. Charles Williams. In 1987, a genetic "marker" was discovered, a missing code on
a tiny portion chromosome number 15. Ten years later Dr. Joseph Wagstaff and Dr. Arthur
discovered the cause of this as a mutation in the UBE3A gene. Every year roughly 12,000 people get
this disease ... Show more content on Helpwriting.net ...
Speech problems, some children don't even talk at all, some may say a few words but they all use
different ways of communication. Jerky, puppet–like movements, Stiff–legged walking style, hand
flopping, hyperactive behavior, and some children have trouble sleeping. They are also loving,
happy, and have social behavior, they are children easily moved to laughter. Intellectual disability– a
child will have delayed development in all areas and disability is severe in most

An English physician discovered Angelman syndrome in 1965, Dr. Harry Angelman, who described
this disorder by three patient, which showed similar characteristics such as: stiff, jerky gait, absent
speech, and excessive laughter and seizures. Angelman syndrome is a severe intellectual disability
resulting in ataxia (movement and balance difficulties), epilepsy, behavioral uniqueness, mental
retardation, and severe speech impairment. The occurrence of this genetic disorder is approximately
1/20,000 births. The disorder is categorized as a neurodevelopment disorder as it affects primarily
the nervous system. Patients have been described as having an angel–like demeanor as they are
frequently smiling and/or laughing; the patients have a very happy and excitable personality.
Exterior qualities recognized are the following: having light skin, reduced retinal pigment, low hair
bulb tyrosinase activity, and incomplete melanization of melaonsomes. Typically newborns will not
show abnormalities in the phenotype. Starting around the age of six months parents will start to see
developmental delays in their child. The clinical features as mentioned above do not ... Show more
content on Helpwriting.net ...
First, the most common, which affects 75% of the population, is resulting from de novo maternal
deletions involving chromosome 15q.11.2–913. Second, approximately 25% of the population
results in mutations in gene encoding the ubiquitin protein ligase E3A gene. Third, there are 2–3%
whom results in AS through imprinting defects. Lastly, 2% of the population results from
uniparental disomy of 15q11.2–913, where the child receives two copies of a chromosome from
parent and no copies from the other parent. The image below (Figure 1) shows the different genetic
mechanisms that cause Angelman syndrome. We have a side–by–side visual of the chromosome and
what the defect(s) look like, and where it takes place on the maternal

Angelman Syndrome : The Happy Puppet Syndrome
According to the US National Library of Medicine (2017), Angelman Syndrome, also known as
Happy Puppet Syndrome is a "complex genetic disorder that primarily affects the nervous system."
Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene
(UBE3A) located on chromosome 15.
Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he
witnessed three young children who represented similar symptoms. They all had bright, happy
personalities, along with stiff movements, lack of speech and seizures. While in Italy for the
holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same
physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome,
which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a
physician, identified children who seemed to have Prader–Willi Syndrome, a similar genetic
disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader–Willi
Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived
chromosome 15, while Prader–Willi Syndrome is the deletion of the paternally derived chromosome
15.
Symptoms of Angelman Syndrome include, but are not limited to sleeplessness, hyperactivity, short
attention spans, feeding difficulties and sensitivity to heat. It is also common for people with
Angelman Syndrome to have developmental delays, lack of speech,

Angelman Syndrome is a rare disease that affects one in every 20,000 children. The disease used to
be known as "happy puppet syndrome" because children that have it have happy moods and their
gestures look like a puppets. However, the only name that is used for the disease today is Angelman
Syndrome or AS. This disease is caused by a mutation in chromosome fifteen. It is disease that
should be taken very seriously.
Angelman Syndrome is neurons in the brain that lack the expression of a non–functional UBE3A.
UBE3A is Ubiquitin–protein ligase and E3A is an enzyme that is encoded in humans by the UBE3A
gene. This enzyme includes targeting protein that declines inside cells. Angelman Syndrome is
affected by problems with a gene in chromosome fifteen which is called Ubiquitin–protein ligase
E3A (UBE3A). Symptoms are usually noticed during six to twelve months of age in a child. A lack
of crawling or babbling, having a frequent smile, laughter, and a happy, excitable personality are
early symptoms of the disease. As a person gets older they have minimal or no speech and have an
inability to walk, move or balance well, which is also called ataxia. They display jerking
movements, tongue thrusting, bursts of laughter and have epilepsy. ... Show more content on
Helpwriting.net ...
The tests that are done check for developmental delays, small head size and flatness on the back of
the head. If the disease is found in someone there is no cure for it. Researchers are focusing on how
to treat the specific gene. There isn't a lot that you can do for the disease, but you can do some
treatments that can help with symptoms. Some people have to take anti–seizure medication. Others
go to communication, behavior and physical therapy to help with walking or balance issues.
Seizures are recurrent in people that have Angelman Syndrome and those reoccurring seizures can
make their symptoms

Genetic Identification of Major Psychiatric Disorders Essay
Most major psychiatric disorder diagnoses are defined as descriptive syndromes on the basis of
expert consensus. The Diagnostic and Statistical Manual of Mental Disorders (DSM) and the
International Classification of Diseases (ICD) are the standard diagnostic tools used by psychiatrists
and clinicians world–wide. Unfortunately, these manuals are classified by clinical agreement and
encounter revision every few years. Perpetual revision and increased medicalization of mental
disorders also creates a dilemma for diagnosis and treatment of psychiatric disorders such as autism
spectrum disorder (ASD), schizophrenia, attention deficit hyperactivity disorder (ADHD), major
depressive disorder and bipolar disorder. Diagnostic classification and ... Show more content on
Helpwriting.net ...
While French physicians consider ADHD a psychosocial condition rather than a biological, only
0.5% of French children are diagnosed with ADHD. Conversely, 11% of US children are diagnosed
as well as prescribed drugs such as Ritalin and Adderall. The over diagnosis of child–onset ADHD
in the US also correlates with the rise of Ritalin prescription and abuse in school and college age
adolescents (Mayes et al., 2008). Although physicians are working to implement greater scrutiny on
false diagnoses of ADHD, there is still heavy misuse among the adolescent population and
variability of doctor bias. The inconsistency in both reliable diagnostic and treatment consensus
emphasize the imperative to implement stronger genetics based studies of psychiatric disorders.
Such studies to pinpoint genes, gene products and eventually, neuro–biological pathways related to
mental disorders can elucidate focused diagnostic tests and effective treatments for mental health
patients. Population based studies were among the first scientific studies to confirm the heritable
nature of mental disorders. Since the 1970s, psychiatrists clinically observed mental disorders
among family members and hypothesized their possible heritable tendencies.
Such hypotheses could not be empirically proven until researchers began doing twin and family
studies. Before the Lichtenstein et al. (2009) family study, several population–based studies were
conducted,

Rat Brain Case Study
1000 µg rat brain lysate was incubated with 50 µg construct overnight on a shaking incubator at
4°C. Samples were loaded on a polyacrylamide gel and processed for immunoblotting (see
appendix)
Immunoblotting for sacsin and JIP3 interaction
Primary Sacsin and JIP3 antibodies (Santa Cruz cat. sc–515118 and sc–46663) raised in mice were
added in a 1:3000 and 1:2000 ratio respectively to the corresponding membrane sections and
incubated on a shaking incubator for 1 hour. Next, excess antibody was removed by washing 3 times
with TBST. Secondary goat anti mouse HRP antibody (Cedarlane Laboratories cat. 115–035–146)
was added in a 1:4000 ratio to 20 ml of 5% BSA in TBST. The membranes were washed 3 times
with TBST. To image the proteins, 3 ml of ... Show more content on Helpwriting.net ...
After three hours, the coverslips were carefully washed with 1X PBS at 37°C, and fixed for 20
minutes with 4% Paraformaldehyde in PBS.
Immunofluorescence on HeLa cell lines
The coverslips were washed with 1X PBS. Permeabilized for 5 minutes with 500 µl PBS + 0.2%
Triton X–100, then washed again with 1X PBS. The cells were blocked for 1 hour with 2% BSA in
PBS. Then the cells were incubated for 1 hour with primary LAMP1 antibody raised in mice at a
concentration 1:50 (cat. ab25630 Abcam), diluted with 2% BSA in PBS. The coverslips were
washed 3 times with 1X PBS and incubated for 45 minutes with secondary Alexa Flour 647 goat
anti mouse antibody (cat. A21236 Invitrogen), at a concentration of 1:500, diluted in PBS + 2%
BSA. The coverslips were then washed 3 times with 1X PBS. The coverslips were mounted using
DAKO mounting media (cat. S3023), and imaging of the cells was performed using an LSM 710
(ZEISS) confocal fluorescence microscope.
Results, add table for results but remove from text, no methods here at all, controls
JIP3 interaction with sacsin domains
To find the critical binding region of sacsin which interacts with JIP3, six well–characterized N–
terminally GST–tagged sacsin deletion constructs, which include the three SIRPTs, DNAJ–HEPN,
UBE3A binding site, and UBL domains (Fig.1), were expressed in a bacterial system and used in
pulldown assays to test for JIP3 binding. These domains

The Angelman Syndrome
ANGELMAN SYNDROME 3 Angelman syndrome Angelman syndrome was first identified by
Harry Angelman in 1965. It is a genetic disorder and Angelman noted the disease as a unique
'syndrome' by the presence of "several children in his practice as having "flat heads, jerky
movements, protruding tongues, and bouts of laughter" (Stรถppler 2012: 1). Symptoms usually
become notable from ages 6 to 12 months and about 1 in 12,000 to 20,000 people are affected.
Although children with Angelman syndrome are prone to epileptic seizures from age two onward,
their life expectancy is otherwise normal. Identifiers of Angelman syndrome include cognitive and
developmental delays and problems with coordination of speech and movement (Stรถppler 2012:1).
Children with Angelman syndrome are also often described as hyperactive. Children appear normal
at birth but often begin to have feeding problems and do not meet expected developmental
milestones. The characteristics typical of Angelman syndrome derive from the "loss of function of a
gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit
one copy of the UBE3A gene from each parent" and both are activated in most of the body
(Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the
brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal
copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will

Genetic Disorders: Angelman Syndrome
A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of
the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but
it may or may not show in the offspring depending on whether the genetic disorder is a dominate or
recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders
cause improvements within the human species while others cause severe retardation of the human
species. In this paper, the genetic disorder Angelman Syndrome will be discussed.
Angelman Syndrome was first discovered in 1965 by English pediatrician Harry Angelman, he
called it "Happy Puppet Syndrome". He had observed three children that were admitted to his
practice that all displayed similar conditions. He was unable to prove that these children were
suffering from "Happy Puppet Syndrome" because of the technology he had so he decided not to
publish any of his research on this disorder. It was not until he was on vacation and saw a painting
of a boy with a puppet, which reminded him of the children that he had treated, that he decided to
report his findings to medical journals. Angelman Syndrome was not heavily researched until the
1980's when reports of this disordered appeared in the United States. In 1987, researchers found that
the cause of Angelman Syndrome was from a missing portion of the genetic code on chromosome
15. Angelman Syndrome is a genetic disorder that

Essay On Angelman Syndrome
Angelman Syndrome
"A rare congenital disorder characterized by mental disability and a tendency toward jerky
movement, caused by the absence of certain genes normally present on the copy of chromosome 15
inherited from the mother." – Google Dictionary
Description:
Angelman Syndrome (AS) is a rare, complex, genetic disorder that targets the nervous system. It
results from the loss of the gene, "UBE3A" located on chromosome 15. The gene is inherited from
both the father and the mother, but only in certain spots of the brain is the UBE3A gene inherited
from the mother. Several genetic mechanism can inactivate or delete the maternal copy. About 70
percent occur when a segment of the maternal chromosome 15 containing the gene is deleted. In
about 11 percent, Angelman Syndrome is caused by a mutation in the maternal copy of the UBE3A
gene. Without UBE3A, the person will not have any active UBE3A in some spots in ... Show more
Babies can begin being diagnosed when they are about six to twelve months old or sometimes
taking a little longer leading into their early childhood.
At an early age there are a variety of symptoms that include developmental delays (lack of crawling,
babbling, intellectual disability), very minimal speech or none at all, inability to walk, move, or
balance, frequent smiling and laughter, and excessive happiness, seizures usually begin between the
age of 2 and 3, stiff or jerky movements, head size being unusually small with flatness in the back of
the head, tongue thrusting, light pigmentation in hair, skin and eyes, and unusual behavior such as
hand flapping or arms uplifting.
As they age, they usually become less excited causing their sleeping problems to improve. However,
they will continue to have intellectual disability, severe speech impairment, and seizures throughout
their life (NORD,

Research Paper On Angelman Syndrome
Angelman Syndrome is a hard disease affecting the nervous system. It is a lot of work to go through
to have this syndrome. This disease is another story. Kids with this syndrome have side–to–side
curvature of the spine. This disorder causes development disabilities and nerve–related symptoms.
This syndrome is most often caused by problems with a gene located on chromosome 15 called the
ubiquitin protein ligase E3A (UBE3A) gene. Typically, kids are happy, excitable demeanor, with
frequent smiling, laughter, and hand flapping movements, difficulty sleeping, and problems with
movement and balance. Kids with this disease have distinctive facial features. This disease is
noticeable by the age of 6 to 12 months. Parental DNA pattern test is a test

Causes Of Neurogenesis Of Autism
Neurogenesis of Autism
Molecular switching on/off due to genetic mutation is one of the causes of developing Autism. In a
new study, neurogenesis mechanism which increases the risk of development the autistic spectrum
disorder has been explored.
UBE3A gene encoded an enzyme in human named Ubiquitin–protein ligase E3A. Changes in this
gene may cause different neurodevelopmental disorders including Autism and Angelman syndrome.
Autism is a genetically heterogeneous disorder associated with synaptic deficits, social impairment,
and stereotyped behaviors. For a number of years, researchers in genetic science have been
exploring so many gene mutations in patients with autism and their families but how these
mutations affect protein function or contribute to disease was unknown. It is therefore welcome
news that recent study explored the molecular mechanism that seems to underlie autism disorders. ...
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Based on the new version (2013) of Diagnostic and Statistical Manual of Mental Disorders (DSM–
5), Autism Spectrum Disorder (ASD) is a complex developmental disorder that can cause problems
with thinking, feeling, language and the ability to relate to others. The effects this neurological
disorder, which is due to the malfunctioning of the brain are different in each person . The concept
of autistic spectrum disorder is broad, and not restricted to the classic clinical picture. ASD
Characteristics in DSM–5 changed from triad (social, communication, behavioral) into a dyad by
combining the social and communication domains and it showed the importance of these

Compare And Contrast Angelman Syndrome And Prader Willi...
Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are both congenital neurological
disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but
genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or
Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS,
but physical and mental therapy can help.
AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene,
paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS
is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The
loss of the SNORD116 gene on chromosome

Angelman Syndrome and Prader-Willi Syndrome Essay
Angelman Syndrome & Prader–Willi Syndrome
Introduction
Prader–Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes
linked by missing genetic imprints on the 15th chromosome's q arm between regions 11 and 13 .
While both orders result in mental deficits, their symptoms are otherwise segregated from the other
in their entirety. The differences in the disorders are the result of differing DNA methylation patterns
present in maternally and paternally inherited DNA. If the deletion occurs in the mother's DNA,
then Prader–Willi Syndrome appears. When the deletion occurs in the father's DNA, Angelman
Syndrome is the result.
The phenotypical differences between the two disorders are drastic. Those with ... Show more
The Nature of the Disease Angelman syndrome is thought to be caused mainly by the deletion of the
maternally inherited copy of UEB3A. A small number of cases are also caused by failures in
imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound
mental effects are caused by this gene due to the fact that, while UEB3A's protein is active in
various bodily tissues, only the mother's copy of the gene is active in the brain. The phenotype of
Angelman Syndrome is not overt enough to be detected unless it is being specifically looked for.
EEG scans are capable of detecting the disease at early ages, before it is otherwise possible to
detect.
Prader–Willi
Prader–Willi is caused by either deletions, failure in imprinting, or monosomy/disomy 15 from the
father's side. The genes involved are known to include, but are not known to be limited to SNRPN
and NDN. NDN odes for the protein Necdin, which, in rodents, interacts with neurotrophin
receptors in a way that is not completely understood to promote normal cognitive development.
SNRPN codes for several products, including small nucleolar RNAs, a splicing factor involved in
RNA processing, and a polypeptide known as SNURF. The precise role of this gene is unknown.
Symptoms. Prader–Willi syndrome presents symptoms beginning in utero, where the fetus is less
active than one without the

Causes Of Autism
Autism is a neurodevelopment development that is detected within the first three years of a person's
life. It is becoming a very common disorder in the United States that 1 in every 68 people are being
diagnosed with autism (ASD). Levels of intelligence varies through the person with severe to
average to above normal intelligence. Autism affects speech, communication, and most importantly
are held back from their normal age group activities. The determination to learn more about it is the
key to helping those with limitations one has to know how to prevent it, how to cope, and how to
treat it.
There is no real answer to what causes autism, but they are some factual guesses on what causes it.
Autism can be diagnosed on a person due to pregnancy ... Show more content on Helpwriting.net ...
Most mothers would see indicators by the age of two years old, but a separate analysis was done
where a mother could only see an indicator at one month, one at the age of five years. The mother
that noticed the indicator at one month was noticing that her child was having issues with eye
contact and glazing. Only 7.4% of mothers could suspect anything before the age of one, 31.5% by
one year in a half, 64.8% by the two years, and 70.4% by two years in a half. The examiners were
testing on their repetitive behaviors, language delay, eye contact, and oddities problems. Early
intervention is highly important because it could slow down the severity of autism in the child and
other illnesses that accompany

Angelman Syndrome
There are many diseases and syndromes that occur in the developmental stage of human
development. One of the many syndromes is Angelman syndrome. When this syndrome was first
discovered by Harry Angelman, it was known as "happy puppet syndrome". This syndrome is not
typically diagnosed at birth, but can also be diagnosed from the ages of one to six. This syndrome is
a neuro–genetic disorder that occurs in one in 15,000 people. Because of its rareness, this syndrome
is often misdiagnosed as autism or cerebral palsy. Make thesis– Angelman syndrome is caused by a
defect in the UBE3A gene, has various symptoms, that can be misdiagnosed, and patients will live
with lifelong treatment. The are various causes of Angelman syndrome, but the main cause ... Show
more content on Helpwriting.net ...
Angelman syndrome can be diagnosed within the first year of the life if the abnormalities are
noticed and investigated, but the disorder is more often diagnosed between 1 and 4 years of age as
the child's abnormalities become more clinically apparent (Bevinetto). In order to confirm the
diagnosis, a blood test must be done to look at the child's genetics (Angelman). Then, a combination
of genetic test can reveal the chromosome defects. There are three different defect tests may reveal:
parental DNA pattern, missing chromosome, or gene mutation. Parental DNA pattern test screens for
three of the four genetic defaults that cause this syndrome. To find out if the chromosome is missing
either a fluorescence in situ hybridization (FISH) test or a comparative genomic hybridization test
(CGH) can show if portions of chromosomes are missing. It is rare if Angelman syndrome occurs
with only a gene mutation. This happens when the UBE3A gene is present and active, but mutated.
A UBE3A gene sequencing test is used to look for maternal mutation (Mayo). After the diagnosis is
complete, treatments are discussed with the patient and their

Gabriella Gnaw's Puppet Syndrome
Disease Background
Article notes
An older term for Angelman syndrome is "happy puppet syndrome"
Neuro–Genetic Disorder.
This was primarily named after the English pediatrician, Harry Angelman, who discovered it in
1965.
Harry Angelman, was a pediatrician working in Warrington, England, he first reported three children
with this condition in 1965.
Angelman chose the title "Puppet Children" to describe these cases as being related to an oil
painting he had seen while vacationing in Italy.
Angelman Syndrome is a rare and uncommon brain disorder that occurs once in about every 15,000
births. This primarily affects the nervous system. Many symptoms occur because of the loss of the
function of a gene called UBE3
A classic example of genomic ... Show more content on Helpwriting.net ...
Everyone is curious about why this woman deposited all her winnings on a fairly uncommon
disease. Her response to the reporters was "Angelman Syndrome has affected a family members
very close to me and there is no known cure for it so I am depositing as much money as i possibly
can into funding further research on Angelman Syndrome. As of now there are several research
projects that are going on these days to help find a cure for Angelman Syndrome. The angelman
syndrome foundation (ASF) has invested more than 8 million in Angelman Syndrome research
It has supported more than 78 projects worldwide in the quest to find treatments and a cure.
The Angelman Syndrome Foundation hosts several activities to raise and increase awareness for
Angelman Syndrome. Currently the foundation is holding a walk on May 16th to further increase
awareness.
The foundations sponsors research for the syndrome through grants to hopeful researchers. The ASF
has funded 66 grants which is totaling over 4.6

Angelman Syndrome : A Case Study
Angelman Syndrome: A Case Study
Amy Nicole Bishop, MSNA
Westminster College
December 8, 2017 nicolebishop@outlook.com Keywords: Angelman syndrome, pediatric, GABA
receptors, anesthesia, chromosome 15
Angelman syndrome is a rare genetic disorder caused by a mutation on chromosome 15.1 This
syndrome is characterized by severe developmental delays, seizures, ataxia, craniofacial
abnormalities and a "happy demeanor."1&2 The Gamma–aminobutyric acid (GABA) system in the
central nervous system is directly affected by the chromosomal mutation.2 Angelman syndrome
patients have varying responses to anesthetic agents, increased vagal tone, potential difficult airway
and peripheral weakness.3 These characteristics make patients with ... Show more content on
Helpwriting.net ...
A Cormack and Lehane grade 2 view was obtained during laryngoscopy with a mackintosh 3 blade.
A 6.5 cuffless nasal Ring, Adair and Elwyn tube was placed without difficulty.
During maintenance of the anesthesia 4mg of dexamethasone and 4mg of ondansetron were given to
prevent nausea. She received 300ml of lactated ringers. She was ventilated with pressure support.
She remained hemodynamically stable throughout the case. The anesthesia gas was switched to
desflurane towards the end of the case to facilitate an awake extubation. She received an additional
40mg of diprivan with emergence and 25mcg of fentanyl.
Her dental restoration consisted of treating 11 caries and 1 extraction. At the conclusion of the dental
restoration anesthesia gases were stopped. The patient's consciousness returned quickly. She
remained calm and was extubated. She was transfer to the recovery area and later discharged to the
care of her grandfather. Her total anesthesia time was approximately 1.25 hours. Her anesthesia
course was uneventful.
Discussion
Angelman syndrome was first described in the 1960's as "happy puppet syndrome" by Harry
Angelman, a pediatrician.3 This genetic disorder is characterized by severe developmental delay,
seizures, hyperactivity, uncontrollable laughing and smiling, ataxia, speech delays, and sleeping
disorders.4 Phenotypical characteristics that are a concern for anesthesia include microcephaly,

Autism Refers To A Neuron Developmental Condition, Which
Autism refers to a neuron developmental condition, which impedes the normal child's growth and
progress within a social setting. According to Tzanakaki et al., "an autistic individual finds it
challenging to interact with other people and cannot relate to societal norms ably" (63). Health
practitioners believe that failure of neuron synaptic networks in the brain to develop in a normal way
owing to chromosomal deficiency causes autism. The symptoms and signs of autism become visible
right from infancy. For autistic patients, their cognitive processes are inhibited because their neuron
synaptic junctions are underdeveloped. Arguably, although there is neither scientific nor a clinical,
pathological experiment, which can prove with surety ... Show more content on Helpwriting.net ...
Secondly, autism is a highly inheritable disease. The Medical Research Council (MRC) based in the
United Kingdom pinpoints that the genetic effect on autism ranges between 74 to 98% according to
their study involving 258 twins (Hill et al. 15). They used both dizygotic and monozygotic twins
raised within the same environmental setting by their parents. Dizygotic refers to twins that result
from fertilization of two different eggs by two different sperms while monozygotic refers to twins
that result from one egg fertilization by one sperm. The outcomes of the study indicate that if one
identical twin suffers from the autism spectrum condition, there is approximately 76% probability
that the other twin could be diagnosed with it (Biederman et al. 79). However, fraternal twins, a pair
of twins of the same sex but not necessarily alike resulting from fertilization of two separate ova,
exhibited a low prevalence rate. The proportion of fraternal twins with autism was 18% for girl–boy
pairs and 34% for the same–sex twins (Jeste and Geschwind 77). This population–based twin
illustration signifies the role played by genetics and most importantly opens up the likelihood of
health practitioners getting a better understanding of the autism condition.
Correspondingly, according to the National Institutes of Health (NIH), a family whose first child has
autism has a 5% possibility that the second child would also have autism

Dna Mutations And Its Effects On Humans Essay
DNA Mutations
Over a lifetime our DNA can undergo changes or 'mutations' in the sequence of bases; A, C, G and
T. A mutation is a change that occurs in your DNA sequence, either due to mistakes when the DNA
is being copied or as the result of environmental factors.Mutations are essential for evolution to
occur because they increase genetic variation. Mutations can occur during DNA replication if errors
are made and not corrected in time. The mutation can have a positive or negative affect on humans.
However, mutation can also disrupt normal gene activity. Sometimes DNA mutations don't give a
good or bad affect, the gene might just be different.
DNA mutations do not always cause health and developmental problems, only a small percentage of
mutations cause genetic disorders but most have no impact on health or development.Often cells can
recognise any potentially mutation–causing damage and repair it before it becomes a fixed mutation.
A very small percentage of all mutations actually have a positive effect but these mutations lead to
new versions of proteins that help an individual better adapt to changes in his or her environment. A
beneficial mutation could result in a protein that protects an individual and future generations from a
new strain of bacteria. This is important to modern society because if scientists could harvest a
positive mutation we could already have a vaccine or antibiotic for future diseases.
Currently there are studies for gene therapy to fix

Epigenetic Disorders Paper

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