Abstract
We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNASer(UCN) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNASer(UCN).
| Original language | English |
|---|---|
| Pages (from-to) | 681-683 |
| Number of pages | 3 |
| Journal | Neuromuscular Disorders |
| Volume | 17 |
| Issue number | 9-10 |
| DOIs | |
| Publication status | Published - Oct 2007 |
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Keywords
- Mitochondrial DNA
- Progressive external ophthalmoplegia
- tRNA
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology
Cite this
A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. / Cardaioli, Elena; Da Pozzo, Paola; Gallus, Gian Nicola; Malandrini, Alessandro; Gambelli, Simona; Gaudiano, Carmen; Malfatti, Edoardo; Viscomi, Carlo; Zicari, Enza; Berti, Gianna; Serni, Giovanni; Dotti, Maria Teresa; Federico, Antonio.
In: Neuromuscular Disorders, Vol. 17, No. 9-10, 10.2007, p. 681-683.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss
AU - Cardaioli, Elena
AU - Da Pozzo, Paola
AU - Gallus, Gian Nicola
AU - Malandrini, Alessandro
AU - Gambelli, Simona
AU - Gaudiano, Carmen
AU - Malfatti, Edoardo
AU - Viscomi, Carlo
AU - Zicari, Enza
AU - Berti, Gianna
AU - Serni, Giovanni
AU - Dotti, Maria Teresa
AU - Federico, Antonio
PY - 2007/10
Y1 - 2007/10
N2 - We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNASer(UCN) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNASer(UCN).
AB - We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNASer(UCN) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNASer(UCN).
KW - Mitochondrial DNA
KW - Progressive external ophthalmoplegia
KW - tRNA
UR - http://www.scopus.com/inward/record.url?scp=34548436964&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34548436964&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2007.05.001
DO - 10.1016/j.nmd.2007.05.001
M3 - Article
C2 - 17614276
AN - SCOPUS:34548436964
VL - 17
SP - 681
EP - 683
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 9-10
ER -