Abstract
MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial neuromuscular syndromes. We identified a total of 33 subjects with novel, private or uncommon mutations. Among these, five novel mutations were found in both paediatric and adult cases. We here report on the clinical description of these patients, as well as the biochemical and molecular genetic characterization of the corresponding mutations. Patients 1 and 2 showed changes in ND genes, patient 3 carried a heteroplasmic deletion in the COI gene, patients 4 and 5 carried heteroplasmic mutations in tRNATrp and tRNAPhe, respectively. Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders.
| Original language | English |
|---|---|
| Pages (from-to) | 491-501 |
| Number of pages | 11 |
| Journal | Biochimica et Biophysica Acta - Bioenergetics |
| Volume | 1787 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 2009 |
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Keywords
- Mitochondrial DNA
- mtDNA mutation
- mtDNA Sequence analysis
- Respiratory chain complex deficiency
ASJC Scopus subject areas
- Biochemistry
- Biophysics
- Cell Biology
Cite this
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. / Valente, Lucia; Piga, Daniela; Lamantea, Eleonora; Carrara, Franco; Uziel, Graziella; Cudia, Paola; Zani, Anna; Farina, Laura; Morandi, Lucia; Mora, Marina; Spinazzola, Antonella; Zeviani, Massimo; Tiranti, Valeria.
In: Biochimica et Biophysica Acta - Bioenergetics, Vol. 1787, No. 5, 05.2009, p. 491-501.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Identification of novel mutations in five patients with mitochondrial encephalomyopathy
AU - Valente, Lucia
AU - Piga, Daniela
AU - Lamantea, Eleonora
AU - Carrara, Franco
AU - Uziel, Graziella
AU - Cudia, Paola
AU - Zani, Anna
AU - Farina, Laura
AU - Morandi, Lucia
AU - Mora, Marina
AU - Spinazzola, Antonella
AU - Zeviani, Massimo
AU - Tiranti, Valeria
PY - 2009/5
Y1 - 2009/5
N2 - MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial neuromuscular syndromes. We identified a total of 33 subjects with novel, private or uncommon mutations. Among these, five novel mutations were found in both paediatric and adult cases. We here report on the clinical description of these patients, as well as the biochemical and molecular genetic characterization of the corresponding mutations. Patients 1 and 2 showed changes in ND genes, patient 3 carried a heteroplasmic deletion in the COI gene, patients 4 and 5 carried heteroplasmic mutations in tRNATrp and tRNAPhe, respectively. Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders.
AB - MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial neuromuscular syndromes. We identified a total of 33 subjects with novel, private or uncommon mutations. Among these, five novel mutations were found in both paediatric and adult cases. We here report on the clinical description of these patients, as well as the biochemical and molecular genetic characterization of the corresponding mutations. Patients 1 and 2 showed changes in ND genes, patient 3 carried a heteroplasmic deletion in the COI gene, patients 4 and 5 carried heteroplasmic mutations in tRNATrp and tRNAPhe, respectively. Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders.
KW - Mitochondrial DNA
KW - mtDNA mutation
KW - mtDNA Sequence analysis
KW - Respiratory chain complex deficiency
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UR - http://www.scopus.com/inward/citedby.url?scp=67349197091&partnerID=8YFLogxK
U2 - 10.1016/j.bbabio.2008.10.001
DO - 10.1016/j.bbabio.2008.10.001
M3 - Article
C2 - 18977334
AN - SCOPUS:67349197091
VL - 1787
SP - 491
EP - 501
JO - Biochimica et Biophysica Acta - Bioenergetics
JF - Biochimica et Biophysica Acta - Bioenergetics
SN - 0005-2728
IS - 5
ER -