Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss

Marcus Deschauer; Stefan Neudecker; Tobias Müller; Frank Norbert Gellerich; Stephan Zierz

doi:10.1006/mgme.2000.3002

Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss

Marcus Deschauer, Stefan Neudecker, Tobias Müller, Frank Norbert Gellerich, Stephan Zierz

Martin Luther University Halle-Wittenberg

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Phenotypes of individuals with the mitochondrial A3243G mutation and amount of mutant DNA in different tissues can be very variable, but the proportion of mutant DNA was consistantly lower in blood than muscle in previously studied patients. We detected the A3243G mutation in a 54-year-old patient with cardiomyopathy and hearing loss, where the amount of mutant DNA was higher in blood (19%) than in muscle (6%). This shows that the level of A3243G mutation is not always lower in rapidly dividing tissues such as blood than in muscle, as has been presumed until now. (C) 2000 Academic Press.

Original language	English
Pages (from-to)	235-237
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	70
Issue number	3
DOIs	https://doi.org/10.1006/mgme.2000.3002
State	Published - 2000
Externally published	Yes

Keywords

Cardiomyopathy
Hearing loss
Mitochondrial A3243G mutation
Tissue distribution

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1006/mgme.2000.3002

Cite this

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title = "Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss",

abstract = "Phenotypes of individuals with the mitochondrial A3243G mutation and amount of mutant DNA in different tissues can be very variable, but the proportion of mutant DNA was consistantly lower in blood than muscle in previously studied patients. We detected the A3243G mutation in a 54-year-old patient with cardiomyopathy and hearing loss, where the amount of mutant DNA was higher in blood (19%) than in muscle (6%). This shows that the level of A3243G mutation is not always lower in rapidly dividing tissues such as blood than in muscle, as has been presumed until now. (C) 2000 Academic Press.",

keywords = "Cardiomyopathy, Hearing loss, Mitochondrial A3243G mutation, Tissue distribution",

author = "Marcus Deschauer and Stefan Neudecker and Tobias M{\"u}ller and Gellerich, {Frank Norbert} and Stephan Zierz",

year = "2000",

doi = "10.1006/mgme.2000.3002",

language = "English",

volume = "70",

pages = "235--237",

journal = "Molecular Genetics and Metabolism",

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T1 - Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss

AU - Deschauer, Marcus

AU - Neudecker, Stefan

AU - Müller, Tobias

AU - Gellerich, Frank Norbert

AU - Zierz, Stephan

PY - 2000

Y1 - 2000

N2 - Phenotypes of individuals with the mitochondrial A3243G mutation and amount of mutant DNA in different tissues can be very variable, but the proportion of mutant DNA was consistantly lower in blood than muscle in previously studied patients. We detected the A3243G mutation in a 54-year-old patient with cardiomyopathy and hearing loss, where the amount of mutant DNA was higher in blood (19%) than in muscle (6%). This shows that the level of A3243G mutation is not always lower in rapidly dividing tissues such as blood than in muscle, as has been presumed until now. (C) 2000 Academic Press.

AB - Phenotypes of individuals with the mitochondrial A3243G mutation and amount of mutant DNA in different tissues can be very variable, but the proportion of mutant DNA was consistantly lower in blood than muscle in previously studied patients. We detected the A3243G mutation in a 54-year-old patient with cardiomyopathy and hearing loss, where the amount of mutant DNA was higher in blood (19%) than in muscle (6%). This shows that the level of A3243G mutation is not always lower in rapidly dividing tissues such as blood than in muscle, as has been presumed until now. (C) 2000 Academic Press.

KW - Cardiomyopathy

KW - Hearing loss

KW - Mitochondrial A3243G mutation

KW - Tissue distribution

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U2 - 10.1006/mgme.2000.3002

DO - 10.1006/mgme.2000.3002

M3 - Article

C2 - 10924279

AN - SCOPUS:0033863832

SN - 1096-7192

VL - 70

SP - 235

EP - 237

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss

Abstract

Keywords

UN SDGs

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