Fatal Cellular Malfunction Identified in Huntington’s Disease

Researchers believe they have learned how mutations in the gene that causes Huntington’s disease kill brain cells. A study, reported online in Nature Neuroscience, found in mice and in mouse brain cell cultures that the disease impairs the transfer of proteins to mitochondria, causing brain cell death. Huntington’s disease is caused by a defect in the huntingtin gene, which makes the huntingtin protein. Scientists have known for some time that the mutated form of the huntingtin protein impairs mitochondria and that this disruption kills brain cells. But they have had difficulty understanding specifically how the gene harms the mitochondria. In this new study, researchers found that the mutated huntingtin protein binds to TIM23, a protein complex that normally helps transfer essential proteins and other supplies to the mitochondria, but the mutated huntingtin protein impairs that process — a problem that seems to be specific to brain cells early in the disease. To learn more about the study, click here.