Kumamoto University

Takumi Era

Tetsumi Irie

Fumio Endo

Takayuki Kiboku

Shiro Matsumoto

A pathological mechanism in FOP patients is further revealed, and development of a novel therapeutic drug, therapeutic method, diagnostic method, etc. utilizing an obtained finding is provided. The inventors have found a novel finding that in FOP, ectopic ossification, which occurs by an inflammation due to an injury, etc., is mediated by PAR1 to occur. From this finding, the inventors completed the present invention relating to a drug, etc. characterized by suppressing ectopic ossification in FOP by inhibiting PAR1.

Therapeutic drug for ectopic ossification having mechanism to inhibit PAR1

[Object] To clarify the mechanism associated with neuropathy in methylmalonic acidemia and to develop a new therapeutic drug or the like for neuropathy in organic acidemia on the basis of this finding. [Solving Means] The inventors established technologies for the establishment of iPS cells derived from a methylmalonic acidemia patient and establishment of a stable maintenance and culturing method using peripheral blood lymphocytes of a methylmalonic acidemia patient, and for the differentiation of methylmalonic acidemia patient-derived iPS cells into nerve cells. The inventors made clear that neuropathy in organic acidemia can be treated and prevented by replenishing cAMP using a series of these experiment technologies. The drug of the invention treats or prevents neuropathy by increasing cAMP in organic acidemia.

Therapeutic agent for neuropathy in organic acidemia of which mechanism relies on increase in cAMP

Provided is a pharmaceutical composition for the treatment of disorders such as Niemann-Pick disease and GM1 gangliosidosis which are caused by the storage of cholesterol, such as lysosomal storage disease. Also provided is a method for screening for said pharmaceutical compositions that uses iPS cell strains that phenocopy phentotypes of these disorders. Provided is a pharmaceutical composition for the treatment and/or prevention of lysosomal storage disease, characterized by containing hydroxypropyl-&#x3b3;-cyclodextrin as an active ingredient. Also provided are an iPS cell strain derived from patients suffering from intractable disorders and prepared using a new temperature-sensitive Sendai virus vector, and a screening method for pharmaceuticals using said iPS cell strain.

Drug for the treatment of cholesterol accumulation disorders

The object of the present invention is to provide a method for screening a substance capable of promoting induction of induced pluripotent stem cells from cells derived from an individual affected by a disease for which it is impossible to produce induced pluripotent stem cells simply by introducing reprogramming genes. The present invention provides a method for screening a substance, which comprises culturing cells derived from an individual affected by a disease for which it is impossible to produce induced pluripotent stem cells simply by introducing reprogramming genes, the cells being transfected with reprogramming genes, in the presence of test substances, and selecting a test substance capable of promoting induction of induced pluripotent stem cells from the cells.

Growing community of inventors

Kumamoto, Japan

Takumi Era