African-American women who carry the 10398A mitochondrial DNA allele are 60 percent more likely to develop invasive breast cancer than African-American females without that genetic marker, according to research published in the September 1 issue of Cancer Research. In this study, the researchers focused on a specific variation (G10398A) in a mitochondrial gene called ND3, which serves as the blueprint for an important component of an enzyme called NADH dehydrogenase. In its changed state, however, an adenine is substituted for a guanine in the DNA structure, resulting in the enzyme containing the amino acid threonine instead of an alanine. The clinical implication of this seemingly trivial alteration is profound. Among the greater population of humans, carriers of 10398A appear to be at higher risk for Parkinson’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis (Lou Gehrig’s disease), and other neurological disorders.
News | American Association for Cancer Research
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