公开(公告)号：US20170067110A1

公开(公告)日：2017-03-09

申请号：US15307061

申请日：2015-04-27

Applicant: KAGOSHIMA UNIVERSITY

Inventor： Hiroshi TAKASHIMA ,  Yujiro HIGUCHI ,  Akihiro HASHIGUCHI ,  Akiko YOSHIMURA

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12M1/00 ,  C12Q2600/156

Abstract: The present invention relates to a detection method for a genetic disease, and specifically relates to detection of disease-causing genes for autosomal recessive inherited Charcot-Marie-Tooth disease (CMT). In the method according to the present invention, a mutation(s) in MME (membrane metallo-endopeptidase) gene, FAT3 (FAT tumor suppressor homolog 3) gene, and/or SELRC1 (Sell repeat containing 1) gene in a biological sample are/is detected.

Abstract translation: 本发明涉及遗传性疾病的检测方法，具体涉及常染色体隐性遗传性Charcot-Marie-Tooth病（CMT）的致病基因的检测。 在本发明的方法中，生物样品中的MME（膜金属内肽酶）基因，FAT3（FAT肿瘤抑制同源物3）基因和/或SELRC1（Sell repeat containing 1）基因的突变为 /被检测。

公开(公告)号：US20160000782A1

公开(公告)日：2016-01-07

申请号：US14769220

申请日：2014-02-14

Applicant: KAGOSHIMA UNIVERSITY

Inventor： Hiroshi TAKASHIMA ,  Shuji IZUMO

IPC: A61K31/505 ,  A61K31/42

CPC classification number: A61K31/505 ,  A61K31/42 ,  A61K31/63 ,  A61K31/635 ,  A61K45/06 ,  A61K2300/00

Abstract: [Problem] The purpose of the present invention is to provide a pharmaceutical composition containing an antibacterial agent, which is effective in elucidating one cause of dementia, and in treatment thereof.[Solution] The present invention provides a pharmaceutical composition for treatment of dementia, containing an antibacterial agent. The present invention moreover provides a pharmaceutical composition for treatment of extreme halophile infections, containing a folic acid synthesis inhibitor.

Abstract translation: 本发明的目的是提供一种含有抗菌剂的药物组合物，其有效地阐明一种痴呆原因及其治疗方法。 [解决方案]本发明提供含有抗菌剂的治疗痴呆症的药物组合物。 本发明还提供了用于治疗极度嗜酸性细菌感染的药物组合物，其含有叶酸合成抑制剂。