Novel Genetic Mitochondrial Disorder (IMAGE)

Fujita Health University

Novel Genetic Mitochondrial Disorder

Caption

A Japanese-European team of scientists described novel mutations in the LIG3 gene, which plays a key role in mitochondrial DNA replication. Normally, mitochondrial DNA is repaired and replicated by LIG3 activity, but if the gene contains mutations, enzymes necessary for energy production are not produced, potentially leading to central nervous system symptoms and muscle defects.

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Fujita Health University

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