This is the blog for Yale's undergrad course ANTH204: An introduction to the patterns and processes of human genetic variation. Topics include: human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.
Tuesday, September 13, 2011
Scientist Discover Genetic Mutation that Causes Parkinson's Disease
Recently, scientists at the Mayo Clinic discovered another genetic mutation that causes Parkinson's disease. This is already the third gene that the Mayo Clinic has discovered with a strong link to the horrible illness.
We already knew that Parkinson's is caused by the death of dopamine containing cells in the substantia nigra, a region of the midbrain. This study farther expands on this knowledge. Scientists identified the gene EIF4GI that helps to produce proteins which a cell needs to cope with biological stress. When this gene malfunctions, cells are unable to cope with biological stress and as a result they die. This in turn causes the disease. This is a new discovery because none of the other genes connected to Parkinson's function in this way. The scientists are hoping that this discovery will lead them to new ways of preventing, curing or slowing the illness.
The discovery was made after studying a large French family with inherited Parkinson's disease. While conducting genetic tests, the scientists stumbled upon the mutated EIF4GI gene.
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