A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNA(Val) mutation

作者：Mezghani Najla; Mnif Mouna; Kacem Maha; Mkaouar Rebai Emna^*; Salem Ikhlass Hadj; Kallel Nozha; Charfi Nadia; Abid Mohamed; Fakhfakh Faiza

来源：Biochemical and Biophysical Research Communications, 2011, 407(4): 747-752.

DOI：10.1016/j.bbrc.2011.03.094

• MELAS syndrome
• Mitochondrial mutations
• m.3243A &gt
• G
• tRNA(Val) gene

Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome is a mitochondrial disorder characterized by a wide variety of clinical presentations and a multisystemic organ involvement. In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and deletions. Screening of the entire mtDNA genome showed several known mitochondrial variants besides to a novel transition m.1640A>G affecting a wobble adenine in the anticodon stem region of the tRNA(Val). This nucleotide was conserved and it was absent in 150 controls suggesting its pathogenicity. In addition, no mutations were found in the nuclear polymerase gamma-1 gene (POLG1). These results suggest further investigation nuclear genes encoding proteins responsible for stability and structural components of the mtDNA or to the oxidative phosphorylation machinery to explain the phenotypic variability in the studied family.

• 出版日期2011-4-22