A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy |
| |
Authors: | Wong Lee-Jun C Wladyka Christopher Mardach-Verdon Rebecca |
| |
Institution: | Molecular Genetics Laboratory, Institute for Molecular and Human Genetics, Georgetown University Medical Center, M4000, 3800 Reservoir Road NW, Washington, DC 20007, USA. wonglj@georgetown.edu |
| |
Abstract: | One challenge in the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is detection of a low percentage of mutant heteroplasmy. We report a patient who had a delayed molecular diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome due to the complication of an extensive family history of another neuromuscular disease, Duchenne muscular dystrophy, and the failure to detect a low proportion of mutant A3243G mtDNA with a polymerase chain reaction (PCR)/restriction fragment length polymorphism (RFLP)/ethidium bromide detection method. Using an improved, more sensitive allele-specific oligonucleotide (ASO) radioactive dot-blot hybridization method, a low degree of A3243G heteroplasmy was detected in several tissues from this patient. This case underscores the importance of a sensitive mutation detection method and the need for a search for mtDNA mutations if the patient's clinical symptoms suggest a mitochondrial disorder despite the family background of another neuromuscular disease. |
| |
Keywords: | Duchenne muscular dystrophy MELAS mitochondrial disorder mtDNA mutation |
本文献已被 PubMed 等数据库收录! |
|