1 / 6

Nobuo Sakura

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency Human Genetics

tori
Download Presentation

Nobuo Sakura

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency Human Genetics Kenichiro Shirao M.D., Satoshi Okada M.D., Go Tajima M.D., Miyuki Tsumura B.Sc., Keiichi Hara M.D., Shin’ichiro Yasunaga M.D., Motoaki Ohtsubo Ph.D., Ikue Hata M.D., Nobuo Sakura M.D., Yosuke Shigematsu M.D., Yoshihiro Takihara M.D., Masao Kobayashi M.D. Author’s affiliations Kenichiro Shirao, Satoshi Okada, Go Tajima, Miyuki Tsumura, Keiichi Hara, Masao Kobayashi,Department of Pediatrics, Hiroshima University Graduate School of Biochemical Sciences, Hiroshima, 734-8551, Japan Shin’ichiro Yasunaga, Motoaki Ohtsubo, Yoshihiro Takihara, Department of Stem Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, 734-8553, Japan Ikue Hata Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, 910-1193, Japan

  2. Nobuo Sakura Nursing House for Severe Motor and Intellectual Disabilities "Suzugamine", Hiroshima, 731-5122, Japan Yosuke Shigematsu Department of Health Science, Faculty of Medical Sciences, University of Fukui, Fukui, 910-1193, Japan K.S. and S.O. are equally contributed to this work. Note: Nucleotide sequence data reported are available in the DDBJ databases under the accession numberAB527081 Corresponding should be addressed to Go Tajima, M.D. Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. Phone: +81-82-257-5212 Fax: +81-82-257-5214 E-mail address: acadugo@mac.com

  3. 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% Sup. Fig. 1a SCAD activity 100 % 48.78 % 10.54 % 3.25 % WT P55L + E344G P55L + G108D R171W + G209S var / var mut / mut

  4. Sup. Fig. 1b SCAD activity 120% 110% 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% WT G108D R171W P55L E344G G209S WT G108D R171W P55L E344G G209S WT G108D R171W P55L E344G G209S 26oC 37oC 41oC

  5. Sup. Fig. 2 MCAD Wild-type DAPI c-Myc mitotracker Merge MCAD K329E c-Myc mitotracker Merge DAPI

  6. Sup. Fig. 3 WT G108D 6.46 5.85 5.30 3.44 7-AAD 3.44 3.06 88.20 84.25 Annexin V

More Related