Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: The confirmation in two new cases

Marco Crimi, Sara Galbiati, Monica Sciacco, Andreina Bordoni, Maria Grazia Natali, Monica Raimondi, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, homoplasmic sequence variations; however, when a heteroplasmic variant is detected (co-existence of two different populations in the same tissue) this is clinically significant. We identified two different heteroplasmic mutations in the mtDNA of two subjects: G4298A in the tRNAAla (Alanine) gene and T10010C in the tRNAGly (Glycine), both of which have been reported previously. This work confirms the pathogenicity of these mutations and helps define the correlation between genotype and phenotype.

Original languageEnglish
Pages (from-to)279-283
Number of pages5
JournalMitochondrion
Volume3
Issue number5
DOIs
Publication statusPublished - Apr 2004

Fingerprint

Mitochondrial DNA
RNA, Transfer, Gly
RNA, Transfer, Ala
Nucleotides
Mitochondrial Encephalomyopathies
Mutation
Genetic Association Studies
Alanine
Glycine
Virulence
Population
Genes

Keywords

  • Encephalomyopathy and point mutation
  • Mitochondrial (mt)DNA
  • tRNA gene

ASJC Scopus subject areas

  • Biophysics

Cite this

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations : The confirmation in two new cases. / Crimi, Marco; Galbiati, Sara; Sciacco, Monica; Bordoni, Andreina; Natali, Maria Grazia; Raimondi, Monica; Bresolin, Nereo; Comi, Giacomo Pietro.

In: Mitochondrion, Vol. 3, No. 5, 04.2004, p. 279-283.

Research output: Contribution to journalArticle

@article{8e91cca7b8ae43238e9d404f93bc0090,
title = "Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: The confirmation in two new cases",
abstract = "Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, homoplasmic sequence variations; however, when a heteroplasmic variant is detected (co-existence of two different populations in the same tissue) this is clinically significant. We identified two different heteroplasmic mutations in the mtDNA of two subjects: G4298A in the tRNAAla (Alanine) gene and T10010C in the tRNAGly (Glycine), both of which have been reported previously. This work confirms the pathogenicity of these mutations and helps define the correlation between genotype and phenotype.",
keywords = "Encephalomyopathy and point mutation, Mitochondrial (mt)DNA, tRNA gene",
author = "Marco Crimi and Sara Galbiati and Monica Sciacco and Andreina Bordoni and Natali, {Maria Grazia} and Monica Raimondi and Nereo Bresolin and Comi, {Giacomo Pietro}",
year = "2004",
month = "4",
doi = "10.1016/j.mito.2004.02.004",
language = "English",
volume = "3",
pages = "279--283",
journal = "Mitochondrion",
issn = "1567-7249",
publisher = "Elsevier",
number = "5",

}

TY - JOUR

T1 - Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations

T2 - The confirmation in two new cases

AU - Crimi, Marco

AU - Galbiati, Sara

AU - Sciacco, Monica

AU - Bordoni, Andreina

AU - Natali, Maria Grazia

AU - Raimondi, Monica

AU - Bresolin, Nereo

AU - Comi, Giacomo Pietro

PY - 2004/4

Y1 - 2004/4

N2 - Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, homoplasmic sequence variations; however, when a heteroplasmic variant is detected (co-existence of two different populations in the same tissue) this is clinically significant. We identified two different heteroplasmic mutations in the mtDNA of two subjects: G4298A in the tRNAAla (Alanine) gene and T10010C in the tRNAGly (Glycine), both of which have been reported previously. This work confirms the pathogenicity of these mutations and helps define the correlation between genotype and phenotype.

AB - Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, homoplasmic sequence variations; however, when a heteroplasmic variant is detected (co-existence of two different populations in the same tissue) this is clinically significant. We identified two different heteroplasmic mutations in the mtDNA of two subjects: G4298A in the tRNAAla (Alanine) gene and T10010C in the tRNAGly (Glycine), both of which have been reported previously. This work confirms the pathogenicity of these mutations and helps define the correlation between genotype and phenotype.

KW - Encephalomyopathy and point mutation

KW - Mitochondrial (mt)DNA

KW - tRNA gene

UR - http://www.scopus.com/inward/record.url?scp=1842558433&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1842558433&partnerID=8YFLogxK

U2 - 10.1016/j.mito.2004.02.004

DO - 10.1016/j.mito.2004.02.004

M3 - Article

C2 - 16120360

AN - SCOPUS:1842558433

VL - 3

SP - 279

EP - 283

JO - Mitochondrion

JF - Mitochondrion

SN - 1567-7249

IS - 5

ER -