Numerous proteins are associated with human genetic diseases. According to the Human Genome Project Information website, protein interactions can be the root cause of genetic pathologies. A genetic disease is a condition that is caused by abnormalities in your genetic material, or genome. There are four principle types of genetic disorders: single-gene, multi-factorial, chromosomal and mitochondrial. Genes encode proteins and a defect in one of your genes can cause your body to manufacture proteins that can significantly affect your health.
Fibrillin
Fibrillin is a protein associated with Marfan syndrome -- a genetic disease that affects humans. According to the National Center for Biotechnology Information, Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. Your FBN1 gene encodes a protein called fibrillin. Fibrillin is important for the formation of elastic fibers that help compose connective tissue in your body. Without fibrillin's structural support, many of your tissues will be weakened, which can cause life-threatening health complications such as ruptures in the walls of your body's arteries. Common signs and symptoms associated with Marfan syndrome include a tall and slender build, long arms, legs, fingers and toes, heart murmurs, nearsightedness, curved spine and flat feet.
Huntingtin
Huntingtin is a protein associated with Huntington's disease, which is a debilitating genetic disease in humans. According to Stanford University, everybody has a gene that codes for huntingtin protein, which is a protein found in the cells of your body. If you have Huntington's disease, a portion of your gene that codes for huntingtin protein is altered, such that you have an excess number of glutamines -- glutamine is one of 20 amino acids encoded by the standard genetic code -- in your huntingtin protein. Common signs and symptoms associated with Huntington's disease include personality changes, decreased cognitive abilities, balance problems, clumsiness, involuntary facial movements, slurred speech, swallowing problems and dementia.
HFE Protein
Human hemochromatosis (HFE), protein is associated with the human genetic disease known as hereditary hemochromatosis, which involves excessive iron absorption from the food you eat. According to Davidson College, HFE protein plays a major role in regulating iron concentration in your cells. When your HFE protein mutates, it can cause a buildup of iron in your body that damages certain organs including your heart, liver and pancreas. Common signs and symptoms associated with hereditary hemochromatosis include joint pain, fatigue, decreased sex drive, impotence, lack of normal menstruation in women and pain in your upper right abdominal quadrant. Possible complications associated with hereditary hemochromatosis include liver cirrhosis, diabetes, congestive heart failure and skin discoloration.
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