title: Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.
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 tRNA(Leu(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 tRNA(Leu(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.
authors: Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genova, Italy.
authors: Giacomo
authors: G
authors: Brisca
authors: Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors: Chiara
authors: C
authors: Fiorillo
authors: Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors: Claudia
authors: C
authors: Nesti
authors: Pediatric Neurology Unit, Genova, Italy.
authors: Federica
authors: F
authors: Trucco
authors: Pediatric Cardiology Unit, Genova, Italy.
authors: Maria
authors: M
authors: Derchi
authors: Orthopaedics and Traumatology Unit, Istituto Giannina Gaslini, Genova, Italy.
authors: Antonio
authors: A
authors: Andaloro
authors: Pediatric Neurology Unit, Genova, Italy.
authors: Stefania
authors: S
authors: Assereto
authors: Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genova, Italy.
authors: Guido
authors: G
authors: Morcaldi
authors: Pediatric Neurology Unit, Genova, Italy.
authors: Marina
authors: M
authors: Pedemonte
authors: Pediatric Neurology Unit, Genova, Italy.
authors: Carlo
authors: C
authors: Minetti
authors: Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address: filippo3364@gmail.com.
authors: Filippo M
authors: FM
authors: Santorelli
authors: Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genova, Italy. Electronic address: claudiobruno@ospedale-gaslini.ge.it.
authors: Claudio
authors: C
authors: Bruno
mesh_terms: D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D012356:RNA, Transfer, Leu
keywords: Cardiomyopathy; Mitochondrial-tRNA; m.3271T>C mutation