Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation

Katalin Komlósi, Richárd Kellermayer, Anita Maász, Viktória Havasi, Katalin Hollódy, Olga Vincze, Hajnalka Merkli, Endre Pál, Béla Melegh

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The mitochondrial DNA A3243G transition is a fairly common mutation which often associates with a MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) phenotype, however, a broad variety in the associated clinical picture has also been described. The patient reported here developed a generalized seizure at age 12, which was followed by bilateral hearing loss and occasional fatigue. The maternal inheritance pattern of hearing loss pointed to a possible mitochondrial origin, which was confirmed by molecular analysis of the mitochondrial DNA, revealing a heteroplasmic A3243G transition. Interestingly, muscle biopsy showed ragged-red fibers in the proband, which is unusual in the deafness-associated forms of this mitochondrial disorder. In addition to hearing impairment in four generations of the family, fatal cerebral embolization in the mother and fatal heart attack in the maternal grandmother (both at age 33) also occurred. On the contrary, diabetes, which usually accompanies the hearing loss variant, was specifically absent in all generations. The unusual manifestations associated with this mutation somewhat differentiate this family from the already known variants.

Original languageEnglish
Pages (from-to)82-86
Number of pages5
JournalPathology and Oncology Research
Volume11
Issue number2
DOIs
Publication statusPublished - Jan 1 2005

Keywords

  • Deafness
  • MELAS
  • Mitochondrial disease
  • mtDNA A3243G
  • tRNA

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Oncology
  • Cancer Research

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