MELAS: Clinical features, biochemistry, and molecular genetics

E. Ciafaloni, E. Ricci, S. Shanske, Carlos T Moraes, G. Silvestri, M. Hirano, S. Simonetti, C. Angelini, M. A. Donati, C. Garcia, A. Martinuzzi, R. Mosewich, S. Servidei, E. Zammarchi, E. Bonilla, D. C. DeVivo, L. P. Rowland, E. A. Schon, S. DiMauro

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Abstract

We studied 23 patients with clinically defined mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), 25 oligosymptomatic or asymptomatic maternal relatives, and 50 mitochondrial disease control subjects for the presence of a previously reported heteroplasmic point mutation at nt 3,243 in the transfer RNALeu(UUR) gene of mitochondrial DNA. We found a high concordance between clinical diagnosis of MELAS and transfer RNALeu(UUR) mutation which was present in 21 of the 23 patients with MELAS, all 11 oligosymptomatic and 12 of 14 asymptomatic relatives, but in only five of 50 patients without MELAS. The proportion of mutant genomes in muscle ranged from 56 to 95% and was significantly higher in the patients with MELAS than in their oligosymptomatic or asymptomatic relatives. In subjects in whom both muscle and blood were studied, the percentage of mutations was significantly lower in blood and was not detected in three of 12 asymptomatic relatives. The activities of complexes I + III, II + III, and IV were decreased in muscle biopsies harboring the mutation, but there was no clear correlation between percentage of mutant mitochondrial DNAs and severity of the biochemical defect.

Original languageEnglish
Pages (from-to)391-398
Number of pages8
JournalAnnals of Neurology
Volume31
Issue number4
StatePublished - Apr 1 1992
Externally publishedYes

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MELAS Syndrome
Biochemistry
Molecular Biology
Mitochondrial DNA
Muscles
Mutation
Mitochondrial Diseases
Point Mutation
Mothers
Genome
Biopsy
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., ... DiMauro, S. (1992). MELAS: Clinical features, biochemistry, and molecular genetics. Annals of Neurology, 31(4), 391-398.

MELAS : Clinical features, biochemistry, and molecular genetics. / Ciafaloni, E.; Ricci, E.; Shanske, S.; Moraes, Carlos T; Silvestri, G.; Hirano, M.; Simonetti, S.; Angelini, C.; Donati, M. A.; Garcia, C.; Martinuzzi, A.; Mosewich, R.; Servidei, S.; Zammarchi, E.; Bonilla, E.; DeVivo, D. C.; Rowland, L. P.; Schon, E. A.; DiMauro, S.

In: Annals of Neurology, Vol. 31, No. 4, 01.04.1992, p. 391-398.

Research output: Contribution to journalArticle

Ciafaloni, E, Ricci, E, Shanske, S, Moraes, CT, Silvestri, G, Hirano, M, Simonetti, S, Angelini, C, Donati, MA, Garcia, C, Martinuzzi, A, Mosewich, R, Servidei, S, Zammarchi, E, Bonilla, E, DeVivo, DC, Rowland, LP, Schon, EA & DiMauro, S 1992, 'MELAS: Clinical features, biochemistry, and molecular genetics', Annals of Neurology, vol. 31, no. 4, pp. 391-398.
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M et al. MELAS: Clinical features, biochemistry, and molecular genetics. Annals of Neurology. 1992 Apr 1;31(4):391-398.
Ciafaloni, E. ; Ricci, E. ; Shanske, S. ; Moraes, Carlos T ; Silvestri, G. ; Hirano, M. ; Simonetti, S. ; Angelini, C. ; Donati, M. A. ; Garcia, C. ; Martinuzzi, A. ; Mosewich, R. ; Servidei, S. ; Zammarchi, E. ; Bonilla, E. ; DeVivo, D. C. ; Rowland, L. P. ; Schon, E. A. ; DiMauro, S. / MELAS : Clinical features, biochemistry, and molecular genetics. In: Annals of Neurology. 1992 ; Vol. 31, No. 4. pp. 391-398.
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AU - Hirano, M.

AU - Simonetti, S.

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