Journal article
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome
T Yamazaki, K Murayama, AG Compton, C Sugiana, H Harashima, S Amemiya, M Ajima, T Tsuruoka, A Fujinami, E Kawachi, Y Kurashige, K Matsushita, H Wakiguchi, M Mori, H Iwasa, Y Okazaki, DR Thorburn, A Ohtake
Pediatrics International | Published : 2014
DOI: 10.1111/ped.12249
Abstract
Background Although mitochondrial respiratory chain disorders (MRCD) are one of the most common congenital metabolic diseases, there is no cumulative data on enzymatic diagnosis and clinical manifestation for MRCD in Japan and Asia. Methods We evaluated 675 Japanese patients having profound lactic acidemia, or patients having symptoms or signs of multiple-organ origin simultaneously without lactic acidemia on respiratory chain enzyme activity assay and blue native polyacrylamide gel electrophoresis. Quantitative polymerase chain reaction was used to diagnose mitochondrial DNA depletion syndrome (MTDPS). Mutation analysis of several genes responsible for MTDPS was also performed. Results A to..
View full abstractGrants
Funding Acknowledgements
This work was supported in part by a grant for Innovative Cell Biology by Innovative Technology (Cell Innovation Program) from the Ministry of Education, Culture, Sports, Science and Technology (MEXT), Japan, and Support Project and a grant of Strategic Research Center in Private Universities from the MEXT, Japan to Saitama Medical University Research Center for Genomic Medicine, and by Grants-in-Aid of the Research on Intractable Diseases (Mitochondrial Disorder) from the Ministry of Health, Labour and Welfare of Japan. Dr Murayama was supported by Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics. Dr Thorburn was supported by a Principal Research Fellowship and grants from the National Health and Medical Research Council (NHMRC) of Australia. The authors thank Dr Ri at Kumamoto University, Dr Kaji at Tsuyama Central Hospital and Dr Maegaki at Tottori University for referral of patient materials.