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

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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