| Autor: |
Pelnena D; a Latvian Biomedical Research and Study Centre , Riga , Latvia., Burnyte B; b Department of Human and Medical Genetics, Faculty of Medicine , Vilnius University , Vilnius , Lithuania., Jankevics E; a Latvian Biomedical Research and Study Centre , Riga , Latvia., Lace B; a Latvian Biomedical Research and Study Centre , Riga , Latvia.; c Centre Hospitalier Universitaire de Québec , Ville de Québec , Canada., Dagyte E; b Department of Human and Medical Genetics, Faculty of Medicine , Vilnius University , Vilnius , Lithuania., Grigalioniene K; b Department of Human and Medical Genetics, Faculty of Medicine , Vilnius University , Vilnius , Lithuania., Utkus A; b Department of Human and Medical Genetics, Faculty of Medicine , Vilnius University , Vilnius , Lithuania., Krumina Z; d Children's Clinical University Hospital , Riga , Latvia., Rozentale J; e Pauls Stradins Clinical University Hospital , Riga , Latvia., Adomaitiene I; f Department of Radiology , Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos , Vilnius , Lithuania., Stavusis J; a Latvian Biomedical Research and Study Centre , Riga , Latvia., Pliss L; a Latvian Biomedical Research and Study Centre , Riga , Latvia., Inashkina I; a Latvian Biomedical Research and Study Centre , Riga , Latvia. |
| Abstrakt: |
The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by mutations in nuclear genes or mitochondrial DNA (mtDNA). In the present study, a novel and robust method of complete mtDNA sequencing, which allows amplification of the whole mitochondrial genome, was tested. Complete mtDNA sequencing was performed in a cohort of patients with suspected mitochondrial mutations. Patients from Latvia and Lithuania (n = 92 and n = 57, respectively) referred by clinical geneticists were included. The de novo point mutations m.9185T>C and m.13513G>A, respectively, were detected in two patients with lactic acidosis and neurodegenerative lesions. In one patient with neurodegenerative lesions, the mutation m.9185T>C was identified. These mutations are associated with Leigh syndrome. The present data suggest that full-length mtDNA sequencing is recommended as a supplement to nuclear gene testing and enzymatic assays to enhance mitochondrial disease diagnostics. |
