Abstract
Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system. Point mutations in the mitochondrial DNA are a common cause of mitochondrial disorders and frequently affect the sequences encoding mitochondrial transfer RNAs. The m.3271T>C mutation in the mitochondrial tRNALeu(UUR) is traditionally reported in patients with clinical features of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and in mitochondrial diabetes. Here we describe the clinical, pathological, and molecular features of an Italian child and his asymptomatic mother, carrying the m.3271T>C mutation in the mitochondrial tRNALeu(UUR) gene, in association with an unusual clinical phenotype dominated by hypertrophic cardiomyopathy and provide review literature of cases with this mutation. To the best of our knowledge, there are no reports describing the association of this mutation with cardiomyopathy, and our cases suggest that the m.3271T>C mutation has to be taken into account in the diagnostic approach of maternally inherited cardiomyopathies.
| Original language | English |
|---|---|
| Pages (from-to) | 601-604 |
| Number of pages | 4 |
| Journal | Biochemical and Biophysical Research Communications |
| Volume | 458 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 13 2015 |
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Keywords
- Cardiomyopathy
- m.3271T>C mutation
- Mitochondrial-tRNA
ASJC Scopus subject areas
- Biochemistry
- Biophysics
- Cell Biology
- Molecular Biology
- Medicine(all)
Cite this
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation. / Brisca, Giacomo; Fiorillo, Chiara; Nesti, Claudia; Trucco, Federica; Derchi, Maria; Andaloro, Antonio; Assereto, Stefania; Morcaldi, Guido; Pedemonte, Marina; Minetti, Carlo; Santorelli, Filippo M.; Bruno, Claudio.
In: Biochemical and Biophysical Research Communications, Vol. 458, No. 3, 13.03.2015, p. 601-604.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation
AU - Brisca, Giacomo
AU - Fiorillo, Chiara
AU - Nesti, Claudia
AU - Trucco, Federica
AU - Derchi, Maria
AU - Andaloro, Antonio
AU - Assereto, Stefania
AU - Morcaldi, Guido
AU - Pedemonte, Marina
AU - Minetti, Carlo
AU - Santorelli, Filippo M.
AU - Bruno, Claudio
PY - 2015/3/13
Y1 - 2015/3/13
N2 - Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system. Point mutations in the mitochondrial DNA are a common cause of mitochondrial disorders and frequently affect the sequences encoding mitochondrial transfer RNAs. The m.3271T>C mutation in the mitochondrial tRNALeu(UUR) is traditionally reported in patients with clinical features of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and in mitochondrial diabetes. Here we describe the clinical, pathological, and molecular features of an Italian child and his asymptomatic mother, carrying the m.3271T>C mutation in the mitochondrial tRNALeu(UUR) gene, in association with an unusual clinical phenotype dominated by hypertrophic cardiomyopathy and provide review literature of cases with this mutation. To the best of our knowledge, there are no reports describing the association of this mutation with cardiomyopathy, and our cases suggest that the m.3271T>C mutation has to be taken into account in the diagnostic approach of maternally inherited cardiomyopathies.
AB - Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system. Point mutations in the mitochondrial DNA are a common cause of mitochondrial disorders and frequently affect the sequences encoding mitochondrial transfer RNAs. The m.3271T>C mutation in the mitochondrial tRNALeu(UUR) is traditionally reported in patients with clinical features of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and in mitochondrial diabetes. Here we describe the clinical, pathological, and molecular features of an Italian child and his asymptomatic mother, carrying the m.3271T>C mutation in the mitochondrial tRNALeu(UUR) gene, in association with an unusual clinical phenotype dominated by hypertrophic cardiomyopathy and provide review literature of cases with this mutation. To the best of our knowledge, there are no reports describing the association of this mutation with cardiomyopathy, and our cases suggest that the m.3271T>C mutation has to be taken into account in the diagnostic approach of maternally inherited cardiomyopathies.
KW - Cardiomyopathy
KW - m.3271T>C mutation
KW - Mitochondrial-tRNA
UR - http://www.scopus.com/inward/record.url?scp=84924029112&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84924029112&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2015.01.157
DO - 10.1016/j.bbrc.2015.01.157
M3 - Article
C2 - 25680467
AN - SCOPUS:84924029112
VL - 458
SP - 601
EP - 604
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 3
ER -