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

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

Keywords

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

ASJC Scopus subject areas

  • Biophysics

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