NIH Demystifying Medicine: The Mighty Mitochondrion and its Diseases

The NIH conducts basic, translational, and clinical research on numerous mitochondrial diseases. This includes common mitochondrial myopathies affecting muscle tissue and also rare mitochondrial genetic disorders causing poor growth, learning disabilities, and even dementia.

Richard Youle is a senior investigator in the NINDS Biochemistry Section and a recipient of the prestigious 2021 Breakthrough Prize in Life Sciences. He has developed a “mitochondrial quality control” system that has elucidated how the body clears damaged mitochondria and thereby protects against numerous diseases, including Parkinson’s.

Derek Narendra is a Lasker Clinical Research Scholar in the NINDS Inherited Movement Disorders Unit. With a focus on Early Onset Parkinson’s Disease, his lab has discovered that two genes, Parkin and PINK1, function in a novel mitochondrial quality control pathway in which impaired mitochondria are targeted for lysosomal degradation by mitophagy.

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