Albinism is a genetic disorder characterized by little or no production of melanin pigment. This results in white hair, pale skin, and vision problems. There are two main types - oculocutaneous albinism, which affects the eyes, skin, and hair, and ocular albinism, which only affects the eyes. The types are distinguished by their genetic cause and symptoms. Albinism is inherited through autosomal recessive or X-linked inheritance patterns. Diagnosis involves examining family history, vision, skin pigmentation, and sometimes genetic testing. There is no cure, but treatments focus on managing vision problems and protecting the skin from sun exposure.
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
This pdf describes the details of some pathological conditions with their treatment.
some conditions
Albinism,
Aniridia
Coloboma
Corneal dystrophies
Cataract
Dislocated lens
Diabetic retinopathy
Keratoconus
Macular hole
Glaucoma
Myopic degeneration
Nystagmus
Optic trophy
Retnial detachment
Retinopathy of prematurity
Retinitis pigmentosa
Stargardt's disease
This presentation covers topics such as history, prevalence, genetics, diagnosis and treatment for Angelman Syndrome (AS). With more emphasis on the genetics, this presentation will explain how maternal 15q deletion and/or paternal disomy leads to the "puppet-like" features which are exclusive for AS. Hope you will get enough information from the slides about AS. (This is a presentation that was done with the help of my classmate Sindhu J. R., initially for her class presentation.)
Conduct some basic research on the recessive disorder Albinism.Des.pdfmeerobertsonheyde608
Conduct some basic research on the recessive disorder Albinism.
Describe the disease and its genetic basis.
Explain how this disease is inherited and why it is not always inherited.
Why is genetic testing controversial?
Provide references for your research
Solution
The term recessive disorder Albinism isdefined a is a congenital disorder which usually happens
due to complete or partial absence of the pigment which is present in the skin, hair and eyes.
Moreover it isr elated to a number of vision defects.These include: photophobia, nystagmus, and
amblyopia. Another important aspect is the Lack of skin pigmentation can usually lead to
sunburn .
This disorder is usually passes from parents to their children through the concept of genes. The
most importaant aspect for inhertiance is that both the parents should carry an albinism gene in
order to have a child who suffers from albinism disorder.Moreover, the parents can also have
normal pigmentation but they still are able to carry the gene. Finally as both parents are able to
carry the gene, and none of the parent has albinism.This means that there is a one-in-four chance
which can happen at pregnancy that the baby will be born with albinism disorder.
Genetic testing is controversial because after determining the sex of the child ,some parents
decide to abort it.So,in order to prevent this it has become controversial in some countries like
india where it is illegal.
References:
1.https://www.aapos.org/terms/conditions/12
2..
Albinism (autosomal recessive)-a brief medical study martinshaji
this is a rare condition of total loss of melanin content in body , but also this is observed now a days more often so , it is necessary to know about this condition , this study gives a clear idea of albinism
please comment
thank you..
Albinism in humans is sometimes caused by a mutation in the OCA2 gene.pdfarcotstarsports
Albinism in humans is sometimes caused by a mutation in the OCA2 gene. Albinism is a __
while the mutant DNA sequence in the OCA2 gene that causes albinism is a genome; allele
allele; chromosome mutation allele; genome mutation; trait phenotype; genotype
Solution
Albinism is a group of rare genetic disorders and termed as Oculocutaneous Albinism (OCA);
wherein the affected person has little or no color in his skin, hair, or eyes. OCA is termed
because the name of Oculocutaneous genes and classified as OCA; 1, 2, 3 and 4. OCA2 is also
called the type II (tyrosinase-positive) OCA2. It is an autosomal recessive disorder and which is
caused by reduced production of melanin pigment. The mutations related to OCA2 are three
large deletions, six different point mutations and two small in-frame deletions. This mutation
occurs in P gene.
So, the fifth option is correct. Albinism is a phenotype because the disease is observable. And the
mutation is associated to autosomal recessive disorder so, it is genotype. This will express when
two recessive genes come together..
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Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
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Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
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These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
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2. Content
What is Albinism ?
The problems associated with it
Types of Albinism
Genetics of Albinism
Diagnosis
Treatment options
Gene therapy of Albinism
3. Albinism and it causes
Albinism (from Latin albus ‘’white’’) is an inherited disease, which characterized
by the partial or complete absence of the pigment melanin, that affects the
skin, hair, eyes and vision
Caused , due to absence or defect of an enzyme involved in the production of
melanin(pigment)
It vary in severity and often causing white skin, light hair, and vision problems.
Albinism is known to affect all vertebrates
All ethnic backgrounds can have it. Albinism is widespread in areas of the
globe nearer to the equator.
In sub-Saharan Africa, albinism affects one in every 5,000 to 15,000 people.
Among some groups, the rate is as high as 1 in 1,000 to 5,000. According to
the National Organization for Albinism and Hypo pigmentation, about 1 in
17,000 to 20,000 people In Europe and the United States.
4. Cont.
Albinism results from inheritance of recessive gene alleles, which is a group
of disorders caused by impaired production of the pigment melanin
albinism can result from mutations in several genes,
including TYR, OCA2, TYRP1, and SLC45A2.
Melanin production is tightly regulated in the body and occurs in specialized
ectodermally-derived cells called melanocytes. Melanocytes may be
cutaneous (hair, skin) or extracutaneous (eye, cochlea), each deriving from a
distinct ectodermal lineage
Melanin is synthesized from the amino acid Tyrosine by a Tyrosinase enzyme
.
People with albinism have been passed down a nonfunctional tyrosinase
allele, which does not allow them to produce melanin.
6. The primary symptoms of albinism can affect the
skin, hair, eye color, and vision.
Skin
The most obvious sign is a lighter skin tone, but skin tone does not
always differ substantially.
In some people, levels of melanin slowly increase over time, darkening
skin tone as the person ages.
freckles
moles, usually pink in color due to the reduced quantities of pigment
lentigines, large freckle-like spots
At higher risk than average of skin cancer risk of skin cancer • no
natural protection against the sun
7. Cont.
Hair
This can range in color from white to brown. Those of African or Asian
descent tend to have yellow, brown, or reddish hair.
As the individual ages, their hair color may slowly darken.
Eyes and Vision
Eyes color varies from very light blue to brown.
The eyes can appear slightly translucent and, in certain light, look red or
pink as the light reflects off the retina at the back of the eye.
Sensitivity to light, known as Photosensitivity/Photophobia
Nystagmus: This is an involuntary movement of the eyes, usually from
side to side but sometimes also up and down. .
Strabismus: The eyes do not function in unison.
8. Cont.
Eyes and Vision
Amblyopia: Also referred to as a "lazy eye."
Myopia or hypermetropia/Refractive error: The person may have extreme
nearsightedness or farsightedness.
Optic nerve hypoplasia: Visual impairment may result from an underdeveloped
optic nerve.
Foveal hypoplasia: The retina , the surface inside the eye that receives light,
does not develop normally before birth and in infancy.
Optic nerve misrouting: Nerve signals from the retina to the brain follow
unusual nerve routes.
Astigmatism: An abnormal inflexibility of the front surface of the eye or lens
results in blurred vision.
10. There are two main categories of albinism in humans:-
Oculocutaneous Albinism (OCA) it is an autosomal recessive disease affecting
the eyes, skin and hair. Researchers have identified multiple types of OCA, which
are distinguished by their specific skin, hair, and eye color changes and by their
genetic cause, There are 7 types of OCA :-
OCA1.
OCA2.
OCA3.
OCA4.
OCA5-OCA7
Ocular Albinism (OA) affecting the eyes only.
People having ocular albinism only lacks pigment in the eyes. They usually have
normal skin and hair color, although its typically lighter than either parent
11. Oculocutaneous Albinism type 1
OCA-1:- It is tyrosinase – related albinism results from a genetic defect in
TYR gene. There are two subtypes of OCA-1 (OCA1A and OCA1B).
OCA1-A, The enzyme is inactive and no melanin is produced, leading to
white hair and very light skin.
OCA1-B, The enzyme is minimally active and a small amount of melanin
is produced, leading to hair that may darken to blonde, yellow/orange or
even light brown, as well as slightly more pigment in the skin.
Individuals in general tend to have:
*very pale or milky skin,
*light-colored irises
* white hair. With age, some individuals skin and hair may darken.
12. Oculocutaneous Albinism type 2
OCA-2 :- results from a genetic defect in the p-protein (OCA2
gene) that helps the tyrosinase enzyme to function. Individuals
with OCA2 make a minimal amount of melanin pigment.
It also results from a defect of MC1R gene.
Type 2 is typically less severe than type 1.
*The skin is usually a creamy white color
*Typically have red hair instead of the usual
yellow or ranging from blonde to light brown.
Occurs most often in sub-Saharan Africans, African-Americans
and Native Americans.
13. Oculocutaneous Albinism type 3
OCA-3 includes a form of albinism called rufous oculocutaneous
albinism (ROCA) , which usually affects dark-skinned
people. Mostly in southern African Blacks.
It is rarely described and results from mutations in
TYRP1 gene, a protein related to tyrosinase.
Individuals with OCA3 can have substantial pigment
Affected individuals have:-
*reddish-brown skin, ginger or red hair
*hazel or brown irises.
*Milder vision abnormalities than
other forms of oculocutaneous albinism.
14. Oculocutaneous Albinism type 4
It results from a genetic defect in the SLC45A2 protein that helps the
tyrosinase enzyme to function. Individuals with OCA-4 make a minimal
amount of melanin pigment similar to persons with OCA-2
This is most common among East Asian populations.
Similar symptoms to those seen with type 2.
Other related conditions of Albinism:-
Hermansky-Pudlak syndrome: This rare variant is most common in Puerto Rico.
The symptoms are similar to oculocutaneous albinism but bowel, heart, kidney,
and lung diseases or bleeding disorders such as hemophilia, are more likely too.
Chediak-Higashi syndrome: This is a rare form of albinism, caused by a mutation
in the CHS1/LYST genes. Symptoms are similar to oculocutaneous albinism but
hair can appear silvery, and the skin can look slightly gray. There may be defects
in the white blood cells, making infections more common.
15. Ocular Albinism (OA)
Ocular albinism is a genetic condition that primarily affects the eyes. This
condition reduces the coloring (pigmentation) of the iris, which is the colored part
of the eye, and the retina, which is the light-sensitive tissue at the back of the
eye. Pigmentation in the eye is essential for normal vision.
is an X-linked disorder caused by mutations in the OA1 gene (approved gene
symbol GPR143) which is expressed in the (RPE). Plays a signaling role that is
important for pigmentation in the eye.
To have Ocular albinism, a male only need to inherit one changed copy
of the gene for OA from his carrier mother. Therefore almost all the
people with OA1 are males.
* Vision problems are present, Absence of melanin pigment in eyes
resulting in pale blue or red eyes
* hair, and skin color are generally in the normal range.
or only slightly lighter
accounts for 10%-15% of all albinism cases.
17. Inheritance
Caused by defects that affect production of the pigment,
melanin, and due to a defect in the "P" gene. People with
this type have slight coloring at birth
Organisms can be carriers of genes for albinism without
exhibiting any traits, albinistic offspring can be produced by
two non-albinistic parents.
Most forms of albinism are inherited in an autosomal
recessive inheritance pattern passed from both parents.
The exception is X-linked ocular albinism. This is passed on
an X-linked inheritance pattern. X-linked recessive
ocular albinism type I (OA1) is due to mutations in
the OA1 gene(approved gene symbol GPR143)
18. Autosomal recessive inheritance
With autosomal recessive
inheritance, an individual
must receive faulty copies
of a gene from the mother
and father to develop
albinism.
Most often, the parents of
an individual with an
autosomal recessive
condition each carry one
copy of the mutated gene,
but they do not show signs
and symptoms of the
condition.
19. X-linked inheritance
X-linked recessive conditions mainly
affect males.
Because females carry two X
chromosomes, if one gene damaged, the
other can often make up the shortfall.
Females can still carry and pass on the
gene.
Men, however, have one X and one Y
chromosome. This means that any albino
mutations in their singular X chromosome
will generate the condition.
If the mother has an X-linked mutation,
each daughter will have a 1 in 2 chance
of becoming a carrier and each son will
have a 1 in 2 chance of developing
albinism
21. Diagnosis
Genetic testing is the most reliable and the only way to diagnose albinism.
Tested with a sample of blood (e.g. CVS), hair or skin. However, in families
with a history of albinism, this is not always necessary.
The process of diagnosing albinism most often involves:
Medical history and physical exam
Tests of the skin and brain's response to light
discussion about skin and hair pigmentation changes
examination of the eyes by an expert (ophthalmologist)
comparing the individual's coloration with that of family members
Other diseases can also cause changes in pigmentation, but they will not cause
changes in vision. If pigment changes and vision changes are both present,
albinism is very likely to be the cause.
22. Treatment
Because the disease is genetic, there is no cure. Treatment focuses on
minimizing the symptoms and watching for changes.
Getting the right care for eye problems is essential.
Strategies that may help include:
* Prescription glasses, dark glasses to protect the eyes from the sun
* Wear protective clothing and use of sunscreen SPF 15 or higher for
protection.
* Surgery on the optical muscles can sometimes minimize the "shaking“ in
Nystagmus.
• Procedures to minimize Strabismus can make it less noticeable, but
surgery will not improve vision.
23. Cont.
* Using a large computer screen or high-contrast print material
* Regular skin checks for early detection of skin cancer should be
offered.
* Regular eye exams
* Installing software that converts text to speech
* Using a brightly colored ball when playing games
Albinism does not worsen with age. A child with albinism can flourish
and achieve the same education and employment as a person
without the condition.
An effective therapy is unavailable for albinism at present. However,
to fight OCA in the future, gene therapy can be used.
25. Gene Therapy
Gene therapy has shown important improvements in animal models. This
technique can increase melanin production in the OCA. For this purpose, gene
correction techniques are already available. These comprise techniques to
edit erroneous segments in the genes such as TYR gene.
This technique can include Gene delivery vectors and Gene editing tools.
Gene delivery vectors therapy are retrovirus, adenovirus and AAV, Sendai virus,
and herpes simplex virus type 1 (HSV-1). It is very beneficial for treating
Albinism disorder, For example using AAV technique for curing OCA1 and
OA1.
In addition, to fight albinism, genome editing techniques can be used. These
techniques can comprise (MNs, ZFNs system, TALENs system and
CRISPR/Cas9 system). For example ,CRISPR/Cas9 system can correct
albinism phenotype in rats. Either TALENs or CRISPR/Cas9 system in
combination with iPSCs can be useful to fight albinism.
Research results in animal models have shown remarkable advances.
26. Gene Therapy
To treat certain inherited disorders such as OCA.
GAT technique can be used. Nelwan, Strachan
and Reap showed that GAT aim is clinically
reversible disorders. It also helps to get no exact
for expression levels of the introduced gene and a
clinical outcome at low expression levels .
In this technique, moderate demonstration levels of
an injected gene may result in a significant
difference. In animal models, research results have
shown important advances to treat OCA disorder.
Ikawa et al. introduced a potential primary attempt
toward the progress of in vivo gene therapy
approaches for Hermansky-Pudlak. The authors
showed that lentiviral-mediated gene transfer
corrected HPS1 gene expression and role in human
epidermal melanocytes. HPS1 is one of the
syndromic oculocutaneous albinisms
27. Gene Delivery Vehicles
This method can edit incorrect segments in the albinism genes, for example. For
this purpose, viral vectors such as lentiviruses and AAV can deliver these incorrect
segments for treatment of OCA. These vectors can also deliver gene editing tools
such as MNs, ZFNs system, TALENs and CRISPR/Cas9 to repair albinism genes. in
the hemophilia A case, the CRISPR/Cas9 system in combination with iPSCs is
possible. Nelwan showed that this combination may be useful to overcome
albinism disorder.
They examined the effectiveness of TALENs in making mutations in genes in
Xenopus tropicalis. The authors targeted the tyr gene in their investigation.
They used TALENs in combination with (iPSCs) in their study. Thus, to reverse the
incorrect segments in the tyr gene, It is possible. It seems TALENs system may be
useful to treat albinism in human.
the CRISPR/Cas9 system uses sgRNA to produce site-specific gene editing in
aim cells with great frequency. It operates sgRNA to find the matching string in the
DNA and later construct DSBs. (NHEJ)fixes DSBs. NHEJ generates indel mutations,
guiding to knock-out the role of gene.
28. The purpose of this study:
Subretinal injection of AAV vectors encoding OA1 in
adult Oal-/- mice resulted in amelioration of several-
wave amplitude when the promoters drove the
transgenic expression. AAV-mediated human Tyr gene
delivery to the Tyrc-2j retina resulted in de-novo
melanin synthesis. These data will be crucial to fully
characterize the albino visual phenotype and to assess
the impact of AAV-mediated gene transfer
1- characterize retinal function in Tyrc-2j mice and the
visual pathways in both models
2- determine the therapeutic time window to rescue
the congenital and functional anomalies present in the
albino models
3- optimize gene transfer in Oal-/- retina. In order to
optimize Oal retinal gene transfer they have generated
AAV 2/1 vectors harboring the human OA1 gene under
the expression control of the CMV ubiquitous
promoter, or under the human RPE65 or OA1
promoters to restrict the expression into the retinal
pigment epithelium (RPE).
29. References
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in
Molecular Diagnostics . In PMC US National Library of MedicineNational Institutes of Health (Hum Mutat.
2013. Apr 30; 34(6): 827–835.
Newman, Tim. "Everything you need to know about albinism." Medical News Today. MediLexicon, Intl.,Jul.18.
2018.
elethon Institute of Genetics and Medicine, TIGEM, Naples, Italy;Department of Pediatrics, “Federico II”
University, Naples, Italy. AAV-Mediated Gene Therapy of Albinism Volume 15, Supplement 1, May 2007, Page
S286
Martin L. Nelwan1. Treat Oculocutaneous Albinism with Gene Therapy 16(3): 1-12, 2017; Article
no.JABB.38504 SS: 2394-1081
Amelioration of both Functional and Morphological Abnormalities in the Retina of a Mouse Model of Ocular
Albinism Following AAV-Mediated Gene Transfer volume 12, Issue 4, October 2005, Pages 652-658
Brilliant MH. The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman
syndrome, and a form of hypomelanosis of Ito. Mamm Genome. 1992;3:187–91
Increasing the complexity: new genes and new types of albinism 21 September 2013
AAV-mediated Tyrosinase Gene Transfer Restores Melanogenesis and Retinal Function in a Model of Oculo-
cutaneous Albinism Type I (OCA1)
Editor's Notes
Occurs when genetic defects make the body unable to produce melanin
The most common cause of albinism is an interruption in the functioning of the enzyme tyrosinase.
The skin will likely burn easily in the sun. It does not usually tan.
Melanin protects the skin and eyes against the harmful consequences of environmental light radiation, so
Vision problems related to albinism tend to be worst in newborns but improve rapidly over the first 6 months of life. However, problems with eye health are likely to persist.
OCA1 and OCA2 are the most frequent types and account for approximately 40% and 50%, respectively, of OCA worldwide
OCA3 and OCA4 are far less frequent, OCA4 is rare among Caucasians as well as Africans. It is the majority common in Japanese.
OCA5 has seemed in a Pakistani family. OCA6 has arisen in a Chinese family and a man from eastern India. Finally, OCA7 has seemed in a consanguineous Faroese family, and Lithuanian patients in Denmark
OCA1 is the greatest common subtype discovered in Caucasian. It influences 1 in 40,000 people worldwide. It is extremely rare in African-American. The carrier frequency of OCA1 is 1 in 100 people
Alterations in the MC1R gene can change the appearance of people with OCA 2. This gene helps regulate melanin production and is responsible for some normal variation in pigmentation.
OCA3 or ROCA (Rufous OCA), is extremely rare in Caucasians and Asiatic people
Moreover, there are syndromic forms of albinism, which are characterized by more severe phenotypes affecting a range of additional cell type
If female child is said to have ocular albinism, their parents should be suspicious. while possible if the mother is a carrier of ocular albinism and father has ocular albinism, it is extremely rare case.
RPE= retinal pigment epithelium
one or more defective genes
which means both copies of a gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.
Diagnosis is based on clinical findings of hypopigmentation of the skin and hair in addition to the characteristic ocular symptoms
The level of success in reducing symptoms varies between individuals
Persons with OCA have normal lifespan, development, intelligence and fertility.
*(last sentence) The article published by 1Telethon Institute of Genetics and Medicine, TIGEM, Naples, Italy;2Department of Pediatrics, “Federico II” University, Naples, Italy.in Volume 15, Supplement 1, May 2007, Page S286
*Martin L. Nelwan-Department of Animal Science – Other, Nelwan Institution for Human Resource Development Jl. A.Yani No.24, Palu, Indonesia.
Article in a Journal of advances in biology and biotechnology, Dec.29th.2017
Induced Pluripotent Stem Cells
gene augmentation therapy
MNs as a gene editing tool have not been widely used. Both ZFNs and TALENs have the same techniques. These two techniques use different DNA binding arrays.
Currently performing gene transfer to the fetal and newborn Oa1 -/- and Tyrc-2j retina to determine the therapeutic time window for rescue of both developmental and progressive post-natal landmarks of the disease