Article
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
American journal of human genetics - 1 Oct 1995
Takakubo F, Cartwright P, Hoogenraad N, Thorburn D R, Collins F, Lithgow T, Dahl H H
Abstract excerpt
A mutation in the mitochondrial targeting sequence was characterized in a male patient with X chromosome-linked pyruvate dehydrogenase E1 alpha deficiency. The mutation was a base substitution of G by C at nucleotide 134 in the mitochondrial targeting sequence of the PDHA1 gene, resulting in an arginine-to-proline substitution at codon 10 (R10P). Pyruvate dehydrogenase activity in cultured skin fibroblasts was...
Topics
- Amino Acids
- Arginine
- Base Composition
- Base Sequence
- Genetic Linkage
- Humans
- Infant
- Male
- Mitochondria
- Molecular Sequence Data
- Mutation