Lin Ma1, Wei Mao1, Erhe Xu1, Yanning Cai1, Chaodong Wang1, Jagadish K Chhetri1, Piu Chan1,2,3,4. 1. Department of Neurology, Neurobiology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Brain Disorders, Beijing, China. 2. Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China. 3. Key Laboratory for Neurodegenerative Disease of the Ministry of Education, Beijing, China. 4. National Clinical Research Center for Geriatrics, Beijing, China.
Abstract
Introduction: Mitochondrial DNA polymerase gamma (pol γ) encoded by POLG plays an indispensable role in the process of mitochondrial DNA replication and repair. The mutation of POLG can result in mitochondrial dysfunction leading to a broad spectrum of disease. Methods: We report a 29-year-old Chinese female presented with levodopa-responsive parkinsonism, external ophthalmoplegia and optic atrophy. We conducted clinical, molecular iconographic, histological and genetic analyses on this patient. Results: Sequencing of the POLG gene revealed compound heterozygote mutations of a novel c.2693T > C (p.I898T) mutation in exon17 and c.2993C > T (p.S998L) in exon19. The mutation c.2693T > C (p.I898T) has never been reported. Also our patient's cardinal symptoms are rare and different from other cases which have been reported. Conclusion: This finding of ours has broadened the spectrum of phenotype caused by the mutation of POLG.
Introduction: Mitochondrial DNA polymerase gamma (pol γ) encoded by POLG plays an indispensable role in the process of mitochondrial DNA replication and repair. The mutation of POLG can result in mitochondrial dysfunction leading to a broad spectrum of disease. Methods: We report a 29-year-old Chinese female presented with levodopa-responsive parkinsonism, external ophthalmoplegia and optic atrophy. We conducted clinical, molecular iconographic, histological and genetic analyses on this patient. Results: Sequencing of the POLG gene revealed compound heterozygote mutations of a novel c.2693T > C (p.I898T) mutation in exon17 and c.2993C > T (p.S998L) in exon19. The mutation c.2693T > C (p.I898T) has never been reported. Also our patient's cardinal symptoms are rare and different from other cases which have been reported. Conclusion: This finding of ours has broadened the spectrum of phenotype caused by the mutation of POLG.