Abstract
Mitochondrial disorders are often associated with mutations in mitochondrial tRNA. Independent observation of the same molecular defect in unrelated subjects is a generally required proof of pathogenicity. A sporadic case of chronic external ophthalmoplegia (cPEO) with ragged red fibres (RRFs) has been previously related to an m.12316G>A substitution in tRNALeu(CUN). Sequencing muscle-derived mtDNA, we found the m.12316G>A substitution in an adult woman with mitochondrial myopathy and respiratory impairment. Her muscle biopsy presented several cytochrome c oxidase-negative (COX-) fibres, and RRFs as signs of mitochondrial proliferation. Restriction-fragment length polymorphism (RFLP) analysis of the mutation in isolated muscle fibres showed a threshold of at least 60% of mutated mtDNA to determine a COX deficiency phenotype. This second report of the m.12316G>A mutation in a sporadic patient consolidates its pathogenic nature and provides further elements for genetic counselling.
| Original language | English |
|---|---|
| Pages (from-to) | 107-110 |
| Number of pages | 4 |
| Journal | Journal of the Neurological Sciences |
| Volume | 292 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - May 15 2010 |
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Keywords
- Late-onset myopathy
- mtDNA
- tRNA
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment. / Ronchi, Dario; Virgilio, Roberta; Bordoni, Andreina; Fassone, Elisa; Sciacco, Monica; Ciscato, Patrizia; Moggio, Maurizio; Govoni, Alessandra; Corti, Stefania; Bresolin, Nereo; Comi, Giacomo P.
In: Journal of the Neurological Sciences, Vol. 292, No. 1-2, 15.05.2010, p. 107-110.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
AU - Ronchi, Dario
AU - Virgilio, Roberta
AU - Bordoni, Andreina
AU - Fassone, Elisa
AU - Sciacco, Monica
AU - Ciscato, Patrizia
AU - Moggio, Maurizio
AU - Govoni, Alessandra
AU - Corti, Stefania
AU - Bresolin, Nereo
AU - Comi, Giacomo P.
PY - 2010/5/15
Y1 - 2010/5/15
N2 - Mitochondrial disorders are often associated with mutations in mitochondrial tRNA. Independent observation of the same molecular defect in unrelated subjects is a generally required proof of pathogenicity. A sporadic case of chronic external ophthalmoplegia (cPEO) with ragged red fibres (RRFs) has been previously related to an m.12316G>A substitution in tRNALeu(CUN). Sequencing muscle-derived mtDNA, we found the m.12316G>A substitution in an adult woman with mitochondrial myopathy and respiratory impairment. Her muscle biopsy presented several cytochrome c oxidase-negative (COX-) fibres, and RRFs as signs of mitochondrial proliferation. Restriction-fragment length polymorphism (RFLP) analysis of the mutation in isolated muscle fibres showed a threshold of at least 60% of mutated mtDNA to determine a COX deficiency phenotype. This second report of the m.12316G>A mutation in a sporadic patient consolidates its pathogenic nature and provides further elements for genetic counselling.
AB - Mitochondrial disorders are often associated with mutations in mitochondrial tRNA. Independent observation of the same molecular defect in unrelated subjects is a generally required proof of pathogenicity. A sporadic case of chronic external ophthalmoplegia (cPEO) with ragged red fibres (RRFs) has been previously related to an m.12316G>A substitution in tRNALeu(CUN). Sequencing muscle-derived mtDNA, we found the m.12316G>A substitution in an adult woman with mitochondrial myopathy and respiratory impairment. Her muscle biopsy presented several cytochrome c oxidase-negative (COX-) fibres, and RRFs as signs of mitochondrial proliferation. Restriction-fragment length polymorphism (RFLP) analysis of the mutation in isolated muscle fibres showed a threshold of at least 60% of mutated mtDNA to determine a COX deficiency phenotype. This second report of the m.12316G>A mutation in a sporadic patient consolidates its pathogenic nature and provides further elements for genetic counselling.
KW - Late-onset myopathy
KW - mtDNA
KW - tRNA
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UR - http://www.scopus.com/inward/citedby.url?scp=77950089524&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2010.01.026
DO - 10.1016/j.jns.2010.01.026
M3 - Article
C2 - 20163808
AN - SCOPUS:77950089524
VL - 292
SP - 107
EP - 110
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -