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Title: A new mtDNA mutation in the tRNA[sup Lys] gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

Abstract

Myoclonic epilepsy with ragged-red fibers (MERRF) has been associated with an A[r arrow]G transition at mtDNA nt 8344, within a conserved region of the tRNA[sup Lys] gene. Although the 8344 mutation is highly prevalent in patients with MERRF, it is not observed in 10%-20% of the cases, suggesting genetic heterogeneity. The authors have sequenced the tRNA[sup Lys] gene of five MERRF patients lacking the common 8344 mutation. One of these showed a novel T[r arrow]C transition at nucleotide position 8356, disrupting a highly conserved base pair in the T[Psi]C stem. The mutant mtDNA population was essentially homoplasmic in muscle but was heteroplasmic in blood (47%). Neither 20 patients with other mitochondrial diseases nor 25 controls carried this mutation. These findings suggest that tRNA[sup Lys] alterations may play a specific role in the pathogenesis of MERRF syndrome. 21 refs., 4 figs.

Authors:
; ; ;  [1];  [2]
  1. Columbia Univ. College of Physicians and Surgeons, New York, NY (United States)
  2. Univ. of Alabama, Birmingham (United States)
Publication Date:
OSTI Identifier:
6707643
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 51:6; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; MITOCHONDRIA; METABOLIC DISEASES; TRANSFER RNA; MUTATIONS; DISTRIBUTION; EPILEPSY; FIBERS; GENES; LEVELS; LYSINE; MUSCLES; MYOBLASTS; PATIENTS; PHENOTYPE; PHOSPHORYLATION; RESIDUES; SIZE; AMINO ACIDS; CARBOXYLIC ACIDS; CELL CONSTITUENTS; CHEMICAL REACTIONS; DISEASES; NERVOUS SYSTEM DISEASES; NUCLEIC ACIDS; ORGANIC ACIDS; ORGANIC COMPOUNDS; RNA; 550400* - Genetics

Citation Formats

Silvestri, G, Moraes, C T, Shanske, S, DiMauro, S, and Oh, S J. A new mtDNA mutation in the tRNA[sup Lys] gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). United States: N. p., 1992. Web.
Silvestri, G, Moraes, C T, Shanske, S, DiMauro, S, & Oh, S J. A new mtDNA mutation in the tRNA[sup Lys] gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). United States.
Silvestri, G, Moraes, C T, Shanske, S, DiMauro, S, and Oh, S J. 1992. "A new mtDNA mutation in the tRNA[sup Lys] gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)". United States.
@article{osti_6707643,
title = {A new mtDNA mutation in the tRNA[sup Lys] gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)},
author = {Silvestri, G and Moraes, C T and Shanske, S and DiMauro, S and Oh, S J},
abstractNote = {Myoclonic epilepsy with ragged-red fibers (MERRF) has been associated with an A[r arrow]G transition at mtDNA nt 8344, within a conserved region of the tRNA[sup Lys] gene. Although the 8344 mutation is highly prevalent in patients with MERRF, it is not observed in 10%-20% of the cases, suggesting genetic heterogeneity. The authors have sequenced the tRNA[sup Lys] gene of five MERRF patients lacking the common 8344 mutation. One of these showed a novel T[r arrow]C transition at nucleotide position 8356, disrupting a highly conserved base pair in the T[Psi]C stem. The mutant mtDNA population was essentially homoplasmic in muscle but was heteroplasmic in blood (47%). Neither 20 patients with other mitochondrial diseases nor 25 controls carried this mutation. These findings suggest that tRNA[sup Lys] alterations may play a specific role in the pathogenesis of MERRF syndrome. 21 refs., 4 figs.},
doi = {},
url = {https://www.osti.gov/biblio/6707643}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 51:6,
place = {United States},
year = {Tue Dec 01 00:00:00 EST 1992},
month = {Tue Dec 01 00:00:00 EST 1992}
}