Objective  To investigate the feasibility of multiplex ligation-dependent probe amplification (MLPA) for the molecular diagnosis of mitochondriopathy.

  Methods  Totally 281 patients with suspected mitochondriopathy in Peking Union Medical College Hospital from May 2010 to August 2012 were enrolled in this study. Among them 233 with nervous system damage were from the department of neurology and 48 with suspected Leber hereditary optic neuropathy (LHON) were from the department of ophthalmology. The common mutation sites for mitochondrial disease were detected with MLPA, and the results were verified by mitochondrial DNA (mtDNA) sequencing.

  Results  We found 38 cases carried mtDNA mutations from all 281 cases, and the total detection rate was 13.5%. Among 48 cases suspected of LHON, 19 cases (39.6%) were found containing 3460G > A, 11778G > A or 14484T > C. Among 233 cases suspected of mitochondria related neuropathies, 19 cases (8.2%) were found containing 3243A > G, 8344A > G, 8993T > G or a large deletion. Except that the large deletion could not be sequenced, the other mutations detected by MLPA were all verified as consistent with gene sequencing results.

  Conclusions  MLPA is a rapid, accurate, and simple method for detecting mtDNA mutation for common mitochondriopathy. It is feasible to be used in clinical diagnostic laboratory.