| Content Provider |
World Health Organization (WHO)-Global Index Medicus |
| Author |
Zhao, Zhenhua Zheng, An Ye, Qinyong Chen, Ying Chen, Zhiting Sun, Bin Huang, Huapin Pan, Xiaodong |
| Spatial Coverage |
China |
| Description |
Author Affiliation: Chen Z ( Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.); Zhao Z ( Department of Neurology, Fujian Provincial Hospital, Fujian Medical University, Fuzhou, Fujian 350001, P.R. China.); Ye Q ( Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.); Chen Y ( Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.); Pan X ( Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.); Sun B ( Department of MR and CT, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.); Huang H ( Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.); Zheng A ( Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.) |
| Abstract |
The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases. In the majority of cases, the disease is fatal and patients die before age 5. Mutation m.10197 G>A was found to relate to the severe phenotype of the Leigh syndrome. Here, we describe the first Chinese Leigh syndrome pedigree with this mutation. The proband had the characteristic brain lesions of the Leigh syndrome and presented a decrease in exercise tolerance and mild face paralysis. Sequencing the NADH dehydrogenase, subunit 3 (ND3) gene in the pedigree, revealed that the proband, as well as her unaffected brother, have a high mutant load in the ND3 gene, compared to their mother. Following oneyear treatment with the coenzyme Q10, an obvious improvement in clinical features was observed by magnetic resonance imaging (MRI) in the proband. Our study and previous reports highlight the variability of phenotypic expression of the m.10197 G>A mutation, and suggest that pathogenesis of the syndrome may be affected by a number of factors. This is the first report on successful treatment of an LS patient carrying the mutation m.10197 G>A with the coenzyme Q10, indicating that Q10 may attenuate the mitochondrial dysfunctions caused by the m.10197 G>A mutation. |
| ISSN |
17912997 |
| e-ISSN |
17913004 |
| Journal |
Molecular Medicine Reports |
| Issue Number |
3 |
| Volume Number |
11 |
| Language |
English |
| Publisher |
Spandidos Publications |
| Publisher Date |
2015-03-01 |
| Publisher Place |
Greece |
| Access Restriction |
Open |
| Subject Keyword |
Leigh Disease Diagnosis Genetics Mutation Nadh Dehydrogenase Adolescent Amino Acid Sequence Asian Continental Ancestry Group Biopsy Brain Pathology Child, Preschool Dna Mutational Analysis Dna, Mitochondrial Haplotypes Heterozygote Infant Infant, Newborn Drug Therapy Magnetic Resonance Imaging Muscle, Skeletal Pedigree Ubiquinone Analogs & Derivatives Therapeutic Use Discipline Molecular Biology |
| Content Type |
Text |
| Resource Type |
Article |
| Subject |
Genetics Biochemistry Molecular Biology Cancer Research Molecular Medicine Oncology |
