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

Journal Article · Tue Dec 01 00:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:6707643

Silvestri, G; Moraes, C T; Shanske, S; DiMauro, S ^[1]; Oh, S J ^[2]

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1. Columbia Univ. College of Physicians and Surgeons, New York, NY (United States)
2. Univ. of Alabama, Birmingham (United States)

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.

• OSTI ID: 6707643
• Journal Information: American Journal of Human Genetics; (United States), Vol. 51:6; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

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