GENETIC DISEASES

What are genetic diseases? A genetic disease or disorder is the result of variation, or mutations, in an individuals DNA. It is caused by abnormalities in an individuals genetic material (genome). This is sometimes referred to as a spelling mistake. Genes code for proteins, the molecules that carry out most of the work, perform most life functions, and make up the majority of cellular structures. When a gene is mutated so that its protein product can no longer carry out its normal function, a disorder can result. The Four (4) Types of Genetic Diseases 1. Single-gene/Mendelian/Monogenic - This type is caused by changes or mutations that occur in the DNA sequence of one gene. These are usually rare diseases; some examples are Huntingtons disease and cystic fibrosis. Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked. 2. Multifactorial/Complex/Polygenic - This type is caused by a combination of environmental factors and mutations in multiple genes. Common medical problems such as heart disease, diabetes, and obesity do not have a single genetic causethey are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. 3. Chromosomal -Because chromosomes are carriers of genetic material, such abnormalities in chromosome structure as missing or extra copies or gross breaks and rejoinings (translocations) can result in disease. Down syndrome or trisomy 21 is a common disorder that occurs when a person has three copies of chromosome 21.

GENETIC DISEASES
4. Mitochondrial - This relatively rare type of genetic disorder is caused by mutations in the nonchromosomal DNA of mitochondria. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Examples of Genetic Diseases: 1. Huntingtons disease - Huntington's disease is a disorder passed down through families in which nerve cells in certain parts of the brain waste away, or degenerate. There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the symptoms and help the person function for as long and as comfortably as possible. 2. Muscular Dystrophy - Muscular dystrophy is a group of inherited disorders that involve muscle weakness and loss of muscle tissue, which get worse over time. There are unknown cures for the various muscular dystrophies. The goal of treatment is to control symptoms. 3. Klinefelter syndrome - Klinefelter syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X. This would be written as XXY. Testosterone therapy may be prescribed to help grow body hair, Improve appearance of muscles, Improve concentration, Improve mood and self esteem, Increase energy and sex drive, and Increase strength. REFERENCES: http://www.geneticalliance.org http://www.nlm.nih.gov http://www.ncbi.nlm.nih.gov