Two new mutations in the MTATP6 gene associated with Leigh syndrome.

Two new mutations in the MTATP6 gene associated with Leigh syndrome. Research Abstract Details 

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Two new mutations in the MTATP6 gene associated with Leigh syndrome. Abstract Text:

A-R Moslemi,N Darin,M Tulinius,A Oldfors,E Holme,A-R Moslemi,N Darin,M Tulinius,A Oldfors,E Holme,

In this study we have analyzed the mtDNA encoded ATPase 6 and 8 genes ( MTATP6 and MTATP8) in two children with Leigh syndrome (LS) and reduced Mg (2+) ATPase activity in muscle mitochondria. In patient 1, with a mild and reversible phenotype, mutational analysis revealed a heteroplasmic T --> C mutation at nt position 9185 (T9185C) in the MTATP6. The mutation resulted in substitution of a highly conserved leucine to proline at codon 220. The proportion of the mutation was > 97 % in the patient's blood and muscle and 85 % in blood of his asymptomatic mother. Patient 2, with severe clinical phenotype and death at 2 years of age, exhibited a novel heteroplasmic T9191C missense mutation in the MTATP6, which converted a highly conserved leucine to a proline at position 222 of the polypeptide. The proportion of the mutation was 90 % in fibroblasts and 94 % muscle tissue. This mutation was absent in the patient's parents and sister suggesting that the mutation was de novo. Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.

Two new mutations in the MTATP6 gene associated with Leigh syndrome. Publishing Authors By Initials

AR Moslemi,N Darin,M Tulinius,A Oldfors,E Holme,AR Moslemi,N Darin,M Tulinius,A Oldfors,E Holme,

For similar circulatory and respiratory physiology: respiratory physiology: respiratory physiologic processes: respiration research abstracts see: circulatory and respiratory physiology: respiratory physiology: respiratory physiologic processes: respiration research

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Two new mutations in the MTATP6 gene associated with Leigh syndrome. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropediatrics

VOLUME: 36

Page Numbers: 314-8

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Oct

YEAR: 2005

Two new mutations in the MTATP6 gene associated with Leigh syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Two new mutations in the MTATP6 gene associated with Leigh syndrome. Keywords Mesh Terms:

KEYWORDS: Respiration

MESH TERMS: genetics

Chemical & Substance for Abstract: Two new mutations in the MTATP6 gene associated with Leigh syndrome. Information

Substance Name: MT-ATP6 protein, human

Registry Number: EC 3.6.3.14

Grant and Affiliation Information for Two new mutations in the MTATP6 gene associated with Leigh syndrome.

AFFILIATION: Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden. ali-reza.moslemi@pathology.gu.se

Country: Germany

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MEDLINETA: Neuropediatrics

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