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Literature DB >> 8395787

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

D D de Vries¹, B G van Engelen, F J Gabreëls, W Ruitenbeek, B A van Oost.

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.

Entities: Disease Mutation

Mesh：

Substances：

Year: 1993 PMID： 8395787 DOI： 10.1002/ana.410340319

Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422

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Cited

62 in total

1. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Authors: S L White; V R Collins; R Wolfe; M A Cleary; S Shanske; S DiMauro; H H Dahl; D R Thorburn
Journal: Am J Hum Genet Date: 1999-08 Impact factor: 11.025

2. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors: S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal: J Inherit Metab Dis Date: 1999-12 Impact factor: 4.982

Review 3. Clinical mitochondrial genetics.

Authors: P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal: J Med Genet Date: 1999-06 Impact factor: 6.318

4. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Authors: Akira Sudo; Shiho Honzawa; Ikuya Nonaka; Yu-Ichi Goto
Journal: J Hum Genet Date: 2004-01-17 Impact factor: 3.172

Review 5. Medicinal chemistry of ATP synthase: a potential drug target of dietary polyphenols and amphibian antimicrobial peptides.

Authors: Zulfiqar Ahmad; Thomas F Laughlin
Journal: Curr Med Chem Date: 2010 Impact factor: 4.530

10. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Authors: D D De Vries; L N Went; G W Bruyn; H R Scholte; R M Hofstra; P A Bolhuis; B A van Oost
Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025

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

1. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

2. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Review 3. Clinical mitochondrial genetics.

4. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Review 5. Medicinal chemistry of ATP synthase: a potential drug target of dietary polyphenols and amphibian antimicrobial peptides.

6. Effect of structural modulation of polyphenolic compounds on the inhibition of Escherichia coli ATP synthase.

Review 7. Mitochondrial DNA mutations in human disease.

Review 8. Mitochondrial disease in pregnancy: a systematic review.

9. Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

10. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.