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PMID: 8395787 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

Annals of neurology ·Vol. 34 ·No. 3 ·1993-09-00 ·Pages 410-2

de Vries DD, van Engelen BG, Gabreëls FJ, Ruitenbeek W, van Oost BA

Abstract

By direct sequencing, we have discovered a novel heteroplasmic mutation (T-->C) at nucleotide position 8993 in the mitochondrial ATPase 6 gene in a family with Leigh's syndrome. Another mutation in the same codon (T8993G) has been reported before in Leigh's syndrome. As these two mutations led to different amino acid substitutions, it provides strong evidence for the relevance of ATP synthase dysfunction in maternally inherited Leigh's syndrome.

MeSH Terms

Base Sequence Cytosine DNA, Mitochondrial/blood,genetics,isolation & purification Female Humans Leigh Disease/enzymology,genetics Male Molecular Sequence Data Multienzyme Complexes Oligodeoxyribonucleotides Oligonucleotides, Antisense Pedigree Point Mutation Polymerase Chain Reaction Proton-Translocating ATPases/genetics Restriction Mapping Thymine

Chemicals

DNA, Mitochondrial Multienzyme Complexes Oligodeoxyribonucleotides Oligonucleotides, Antisense Cytosine Proton-Translocating ATPases Thymine

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

de Vries D D

Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.

van Engelen B G

Gabreëls F J

Ruitenbeek W

van Oost B A

Article Info

Journal

Annals of neurology

Abbr.

Ann Neurol

ISSN

0364-5134

DOI

10.1002/ana.410340319

Published

1993-09-00

Pages

410-2

Language

English

Region

United States

NLM ID

7707449

Subset

External Links

PubMed source DOI: 10.1002/ana.410340319 View journal details

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A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

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