A mitochondrial tRNA anticodon swap associated with a muscle disease

Carlos T Moraes, F. Ciacci, E. Bonilla, V. Ionasescu, E. A. Schon, S. DiMauro

Research output: Contribution to journalArticle

105 Citations (Scopus)

Abstract

We have identified an unusual mitochondrial (mt) tRNA mutation in a seven year-old girl with a pure myopathy. This G to A transition at mtDNA position 15990 changed the anticodon normally found in proline tRNAs (UGG) to the one found in serine tRNAs (UGA), and is the first pathogenic anticodon alteration described in a higher eukaryote. The mutant mtDNA was heteroplasmic (85% mutant) in muscle but was undetectable in white blood cells from the patient and her mother. Analysis of single muscle fibres indicated that mutant mtDNAs severely impaired mitochondrial protein synthesis and respiratory chain activity, but only when present at greater than 90%. The recessive behaviour of this mtDNA alteration may explain the patient's relatively mild clinical phenotype.

Original languageEnglish
Pages (from-to)284-288
Number of pages5
JournalNature Genetics
Volume4
Issue number3
DOIs
StatePublished - Jul 26 1993

Fingerprint

Anticodon
Transfer RNA
Mitochondrial DNA
Muscles
Mitochondrial Proteins
Muscular Diseases
Electron Transport
Eukaryota
Proline
Serine
Leukocytes
Mothers
Phenotype
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A., & DiMauro, S. (1993). A mitochondrial tRNA anticodon swap associated with a muscle disease. Nature Genetics, 4(3), 284-288. https://doi.org/10.1038/ng0793-284

A mitochondrial tRNA anticodon swap associated with a muscle disease. / Moraes, Carlos T; Ciacci, F.; Bonilla, E.; Ionasescu, V.; Schon, E. A.; DiMauro, S.

In: Nature Genetics, Vol. 4, No. 3, 26.07.1993, p. 284-288.

Research output: Contribution to journalArticle

Moraes, CT, Ciacci, F, Bonilla, E, Ionasescu, V, Schon, EA & DiMauro, S 1993, 'A mitochondrial tRNA anticodon swap associated with a muscle disease', Nature Genetics, vol. 4, no. 3, pp. 284-288. https://doi.org/10.1038/ng0793-284
Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nature Genetics. 1993 Jul 26;4(3):284-288. https://doi.org/10.1038/ng0793-284
Moraes, Carlos T ; Ciacci, F. ; Bonilla, E. ; Ionasescu, V. ; Schon, E. A. ; DiMauro, S. / A mitochondrial tRNA anticodon swap associated with a muscle disease. In: Nature Genetics. 1993 ; Vol. 4, No. 3. pp. 284-288.
@article{8de0c50c80434a3c8a47c93466bfc2d3,
title = "A mitochondrial tRNA anticodon swap associated with a muscle disease",
abstract = "We have identified an unusual mitochondrial (mt) tRNA mutation in a seven year-old girl with a pure myopathy. This G to A transition at mtDNA position 15990 changed the anticodon normally found in proline tRNAs (UGG) to the one found in serine tRNAs (UGA), and is the first pathogenic anticodon alteration described in a higher eukaryote. The mutant mtDNA was heteroplasmic (85{\%} mutant) in muscle but was undetectable in white blood cells from the patient and her mother. Analysis of single muscle fibres indicated that mutant mtDNAs severely impaired mitochondrial protein synthesis and respiratory chain activity, but only when present at greater than 90{\%}. The recessive behaviour of this mtDNA alteration may explain the patient's relatively mild clinical phenotype.",
author = "Moraes, {Carlos T} and F. Ciacci and E. Bonilla and V. Ionasescu and Schon, {E. A.} and S. DiMauro",
year = "1993",
month = "7",
day = "26",
doi = "10.1038/ng0793-284",
language = "English",
volume = "4",
pages = "284--288",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",

}

TY - JOUR

T1 - A mitochondrial tRNA anticodon swap associated with a muscle disease

AU - Moraes, Carlos T

AU - Ciacci, F.

AU - Bonilla, E.

AU - Ionasescu, V.

AU - Schon, E. A.

AU - DiMauro, S.

PY - 1993/7/26

Y1 - 1993/7/26

N2 - We have identified an unusual mitochondrial (mt) tRNA mutation in a seven year-old girl with a pure myopathy. This G to A transition at mtDNA position 15990 changed the anticodon normally found in proline tRNAs (UGG) to the one found in serine tRNAs (UGA), and is the first pathogenic anticodon alteration described in a higher eukaryote. The mutant mtDNA was heteroplasmic (85% mutant) in muscle but was undetectable in white blood cells from the patient and her mother. Analysis of single muscle fibres indicated that mutant mtDNAs severely impaired mitochondrial protein synthesis and respiratory chain activity, but only when present at greater than 90%. The recessive behaviour of this mtDNA alteration may explain the patient's relatively mild clinical phenotype.

AB - We have identified an unusual mitochondrial (mt) tRNA mutation in a seven year-old girl with a pure myopathy. This G to A transition at mtDNA position 15990 changed the anticodon normally found in proline tRNAs (UGG) to the one found in serine tRNAs (UGA), and is the first pathogenic anticodon alteration described in a higher eukaryote. The mutant mtDNA was heteroplasmic (85% mutant) in muscle but was undetectable in white blood cells from the patient and her mother. Analysis of single muscle fibres indicated that mutant mtDNAs severely impaired mitochondrial protein synthesis and respiratory chain activity, but only when present at greater than 90%. The recessive behaviour of this mtDNA alteration may explain the patient's relatively mild clinical phenotype.

UR - http://www.scopus.com/inward/record.url?scp=0027161003&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027161003&partnerID=8YFLogxK

U2 - 10.1038/ng0793-284

DO - 10.1038/ng0793-284

M3 - Article

VL - 4

SP - 284

EP - 288

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -