Mitochondrial ND5 as the causative gene of Leight syndrome

Objective To report a Chinese Han family with two patients of Leigh syndrome (LS) and to scan the mutation in mitochondrial DNA(mtDNA). Methods The clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA. Results Failure of thrive, psychomotor retardation, hypotonia and weakness,cerebellar ataxia, and seizure were the main manifestations of the family. Brain magnetic resonance imaging (MRI) showed lesions at midbrain, periaqueductal gray matter, dentate nuclei of cerebellar and thalami.The levels of lactic acid and pyruvate were mildly abnormal. The mutation of ND5 * 13513G＞ A was identified in the LS family. Conclusion Patients with ND5 * 13513G ＞ A mutation may have a characteristic clinical course and ND5 * 13513G＞A might be a preferential candidate mutation of Leigh syndrome. Key words: Leigh syndrome; mitochondria; ND5 gene