title: MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.
abstract: The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is characterized clinically by recurrent focal neurological deficits, epilepsy, and short stature. The phenotypic spectrum is extremely diverse, with multisystemic organ involvement leading to isolated diabetes, deafness, renal tubulopathy, hypertrophic cardiomyopathy, and retinitis pigmentosa. In 80% of cases, the syndrome is associated with an AG transmission mutation (A3243G) in the tRNALeu gene of the mitochondrial DNA (mtDNA). We describe a woman with a unique combination of the MELAS A3243G mutation and multiple mtDNA deletions with normal POLG sequence. The patient presented with diabetes mellitus, sensorineural deafness, short stature, and mental disorientation. All her three children died in early adolescence.
authors.affiliation: Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Sharon
authors.initials: S
authors.lastname: Aharoni
authors.forename: Teres A
authors.initials: TA
authors.lastname: Traves
authors.forename: Eldad
authors.initials: E
authors.lastname: Melamed
authors.forename: Sarit
authors.initials: S
authors.lastname: Cohen
authors.forename: Esther Leshinsky
authors.initials: EL
authors.lastname: Silver
mesh_terms: D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D004247:DNA / Q000235:genetics*; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000502:physiology; D012356:RNA, Transfer, Leu / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu; D004247:DNA; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human