Mitochondrial tRNA(Cys) gene mutation (A5814G)

A second family with mitochondrial encephalopathy

Filippo M. Santorelli, Gabriele Siciliano, Carlo Casali, Matthew G. Basirico, Rosalba Carrozzo, Fausta Calvosa, Ferdinando Sartucci, Luca Bonfiglio, Luigi Murri, Salvatore DiMauro

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

We report an Italian family with maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiological evidence of brainstem dysfunction. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 5814 in the tRNA gene for cysteine (A5814G), previously reported in a 5-year-old girl of Portuguese origin. The mutation was very abundant (> 95%) in both muscle and blood from the proposita and was present in lower proportions (average 85 ± 6%) in blood from three less severely affected maternal relatives. This observation confirms pathogenicity for the A5814G mutation.

Original languageEnglish
Pages (from-to)156-159
Number of pages4
JournalNeuromuscular Disorders
Volume7
Issue number3
DOIs
Publication statusPublished - May 1997

Fingerprint

RNA, Transfer, Cys
Chronic Progressive External Ophthalmoplegia
Mutation
Transfer RNA
Mitochondrial DNA
Point Mutation
Genes
Brain Stem
Cysteine
Virulence
Seizures
Mothers
Muscles
Mitochondrial encephalopathy

Keywords

  • Cysteine tRNA
  • Encephalomyopathy
  • mtDNA

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Mitochondrial tRNA(Cys) gene mutation (A5814G) : A second family with mitochondrial encephalopathy. / Santorelli, Filippo M.; Siciliano, Gabriele; Casali, Carlo; Basirico, Matthew G.; Carrozzo, Rosalba; Calvosa, Fausta; Sartucci, Ferdinando; Bonfiglio, Luca; Murri, Luigi; DiMauro, Salvatore.

In: Neuromuscular Disorders, Vol. 7, No. 3, 05.1997, p. 156-159.

Research output: Contribution to journalArticle

Santorelli, FM, Siciliano, G, Casali, C, Basirico, MG, Carrozzo, R, Calvosa, F, Sartucci, F, Bonfiglio, L, Murri, L & DiMauro, S 1997, 'Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy', Neuromuscular Disorders, vol. 7, no. 3, pp. 156-159. https://doi.org/10.1016/S0960-8966(97)00444-6
Santorelli, Filippo M. ; Siciliano, Gabriele ; Casali, Carlo ; Basirico, Matthew G. ; Carrozzo, Rosalba ; Calvosa, Fausta ; Sartucci, Ferdinando ; Bonfiglio, Luca ; Murri, Luigi ; DiMauro, Salvatore. / Mitochondrial tRNA(Cys) gene mutation (A5814G) : A second family with mitochondrial encephalopathy. In: Neuromuscular Disorders. 1997 ; Vol. 7, No. 3. pp. 156-159.
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