A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
F M Santorelli1, S Shanske, K D Jain
1H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disease, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
Abstract:
A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in multiple tissues. This finding documents genetic heterogeneity of the ATPase 6 gene mutation associated with LS.
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