POLG gene related diseases
10.3760/cma.j.issn.1673-4408.2015.06.036
- VernacularTitle:POLG基因相关疾病
- Author:
Chunmei WANG
;
Simei WANG
;
Yucai CHEN
- Publication Type:Journal Article
- Keywords:
POLG gene;
Mutation;
Mitochondrial disease;
VPA
- From:
International Journal of Pediatrics
2015;42(6):725-728
- CountryChina
- Language:Chinese
-
Abstract:
DNA polymerase γis the only known DNA polymerase in human mitochondria,and is essential for mitochondrial DNA replication and repair.DNA polymerase γ is encoded by POLG gene.POLG-related disorders resulted from mutations of POLG gene comprise a continuum of overlapping phenotypes including Alpers Huttenlocher syndrome and other five subtypes, with high prevalence rate at patients with intractable seizure.Genetic testing for POLG mutations in patients with intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations.
