The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype

Charlotte L. Alston; Andreas Bender; Iain P. Hargreaves; Helen Mundy; Charulata Deshpande; Thomas Klopstock; Robert McFarland; Rita Horvath; Robert W. Taylor

doi:10.1016/j.nmd.2010.04.003

The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype

Charlotte L. Alston, Andreas Bender, Iain P. Hargreaves, Helen Mundy, Charulata Deshpande, Thomas Klopstock, Robert McFarland, Rita Horvath, Robert W. Taylor^*

^*Corresponding author for this work

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

7 Citations (Scopus)

Abstract

The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss, with single fibre mutation studies confirming segregation of the m.3243A>T mutation with COX deficiency.

Original language	English
Pages (from-to)	403-406
Number of pages	4
Journal	Neuromuscular Disorders
Volume	20
Issue number	6
DOIs	https://doi.org/10.1016/j.nmd.2010.04.003
Publication status	Published - Jun 2010

Keywords

Mitochondrial DNA
m.3243
CPEO
Pathogenicity
Single fibres
HUMAN-DISEASE
MTDNA
DIAGNOSIS
CELLS

UN SDGs

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

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@article{2308cf67ffde4d63ba2a46de20bda76f,

title = "The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype",

abstract = "The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss, with single fibre mutation studies confirming segregation of the m.3243A>T mutation with COX deficiency.",

keywords = "Mitochondrial DNA, m.3243, CPEO, Pathogenicity, Single fibres, HUMAN-DISEASE, MTDNA, DIAGNOSIS, CELLS",

author = "Alston, {Charlotte L.} and Andreas Bender and Hargreaves, {Iain P.} and Helen Mundy and Charulata Deshpande and Thomas Klopstock and Robert McFarland and Rita Horvath and Taylor, {Robert W.}",

year = "2010",

month = jun,

doi = "10.1016/j.nmd.2010.04.003",

language = "English",

volume = "20",

pages = "403--406",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

number = "6",

}

TY - JOUR

T1 - The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype

AU - Alston, Charlotte L.

AU - Bender, Andreas

AU - Hargreaves, Iain P.

AU - Mundy, Helen

AU - Deshpande, Charulata

AU - Klopstock, Thomas

AU - McFarland, Robert

AU - Horvath, Rita

AU - Taylor, Robert W.

PY - 2010/6

Y1 - 2010/6

N2 - The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss, with single fibre mutation studies confirming segregation of the m.3243A>T mutation with COX deficiency.

AB - The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss, with single fibre mutation studies confirming segregation of the m.3243A>T mutation with COX deficiency.

KW - Mitochondrial DNA

KW - m.3243

KW - CPEO

KW - Pathogenicity

KW - Single fibres

KW - HUMAN-DISEASE

KW - MTDNA

KW - DIAGNOSIS

KW - CELLS

U2 - 10.1016/j.nmd.2010.04.003

DO - 10.1016/j.nmd.2010.04.003

M3 - Article

SN - 0960-8966

VL - 20

SP - 403

EP - 406

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 6

ER -

The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype

Abstract

Keywords

UN SDGs

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