Discovery Of Genetic Mutation In Leigh Syndrome

ScienceDaily (Aug. 15, 2009) — Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system. The study published in Nature Genetics, provides vital insights into the cell biology of this neurological disorder and will lead to the development of diagnostic and predictive tests allowing for family and genetic counseling.

Leigh syndrome usually begins in early childhood and is caused by genetic mutations which result in mitochondrial dysfunction. Mitochondria are compartments in the cell which have their own DNA and function to supply energy to the body. Damage and dysfunction to mitochondrial DNA is a factor in more than 40 types of metabolic diseases and disorders, including Leigh syndrome.

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