Genetic Disease Definition: A disorder of a body function, system or organ caused by an abnormality in an individual’s genetic material
Where does Genetic Material Come From/Review
The genetic material of most living organisms, including human being is found almost exclusively in DNA, ( Deoxyribonucleic)
DNA comprises approximately 40% of the human chromosome while 60% is made up by protein.
There are 23 pairs, or 46 chromosomes in the human cells, with the exception of the sperm cell and the ovum which contain only 23. Each cell also contains mitochondrial DNA.
There are four types of Genetic Diseases
1. Single Gene:
D isorders caused by abnormality or mutation in the sequence of one gene
caused by a combination of environmental as well as mutations in multiple genes
Abnormalities in chromosome structure such as missing or extra copies
caused by a mutation in the non chromosomal DNA of the mitochondria.
Stem cell technology
Examples of Genetic Disorders 1. SCID: Severe Combine Immunodeficiency 2. Type I Diabetes 3. Cystic Fibrosis 4. Hemophilia 5. PKU: Phenylketonuria 6. Galactosemia 7. Achondroplasia 8. Alzheimer’s Disease
Severe Combine Immunodeficiency (SCID, X-SCID) http://www.bt.cdc/gov/training/smallpoxvaccine/reactions/prog_vac_viewall.html
Type I Diabetes http:// www.diabetes.org/home.jsp
Type I diabetes is a genetic disease of the immune system, in which the immune system attacks and most often destroys the beta cells of the pancreas
Diseased Pancreatic Tissue
Cystic Fibrosis http:// www.cff.org /home
An inherited disease that affects sodium channels in the body and causes respiratory and digestive problems.
Affects the mucus and sweat glands
Caused by a defective gene
Chronic lung infections
Causes malabsorption and malnutrition
Stools, pale or clay colored
Coughing or wheezing
antibiotics for respiratory infections
Lung transplant in rare cases
ibuprofen may slow lung deterioration
Hemophilia The oldest known genetic blood disorder: There are two types of Hemophilia, Type A and Type B H emophilia A patients lack the blood clotting protein factor VIII Hemophilia B patients lack the blood clotting protein, factor IX
Phenylketonuria (PKU) PKU is a human genetic disease known as phenylketonuria. Normally humans have one or two of the genes that encodes for the protein phenylalanine hydroxylase thus can metabolize foods containing the amino acid phenylalanine. People with PKU have a gene that encodes for a nonfunctional version of phenylalanine hydroxylase thus cannot metabolize phenylalanine .
Phenylketonuria(PKU) Phenylketonuria - Genetics Home Reference Unable to metabolize phenylalanine
Galactosemia is an autosomal recessive disorder, resulting from a deficiency in one of several enzymes necessary for the metabolism of galactose. Galactose is formed when lactose, the major sugar of milk and most soy commercial infant formulas, is digested in the body.
ACHONDROPLASIA Achondroplasia Defined as a bone growth disorder characterized by abnormal body proportions
It is inherited in an autosomal dominant fashion but the majority of cases (about 80%) are due to spontaneous mutations of alleles of normal sized parents. It is the most common cause of dwarfism accounting for about 70% of all cases of dwarfism Mutations of the FGFR3 gene on chromosome 4 causes achondroplasia Average height of an adult male - 4 foot 4 inches (131 cm or 52 inches) Average height of an adult female - 4 foot 1 inch (124 cm or 49 inches)
Alzheimers Alzheimer's Association | Home
What is Alzheimers?
Alzheimers is a form of dementia that causes changes in the brain, and affects a person’s memory, mood, and behavior. This disease mostly affects people over 65.
There is no specific test for Alzheimer’s disease, however, physician are able to look at a person’s medical history, do a complete physical or give a memory and/or psycological test to see how well the brain works. They may also order a brain scan.