The University of Tokyo

Athena Diagnostics, Inc.

Takeda Chemical Industries, Inc.

Niigata University

Srl, Inc.

Shoji Tsuji

Yasuo Ihara

Yoko Uchida

Hiroyuki Ishiura

Osamu Onodera

Kazuhiro Sanpei

Tadashi Miyatake

A method for determining a hyperexcitability in a subject comprising detecting a repeat expansion of TTTCA, TTTTA, or a complementary sequence thereof in a nucleic acid sample from the subject.

Method and kit for determining hyperexcitability in subject

The present invention provides a method of diagnosing a cerebrovascular disease in a human comprising the steps of: (a) measuring a mutation of HTRA1 gene in a test sample from said human; and (b) determining if the mutation of HTRA1 gene in said test sample correlates with a cerebrovascular disease in said human.

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease

The present invention provides polynucleotides and proteins, which are involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and methods of using the polynucleotides and/or proteins to treat and/or diagnose EAOH.

Application of aprataxin gene to diagnosis and treatment for early-onset spinocerebellar ataxia (EAOH)

To elucidate the molecular mechanisms of &ldquo;gain of toxic function&rdquo; of expanded polyglutamine stretches in CAG repeat expansion diseases, the inventors established an expression system of full-length and truncated cDNAs for dentatorubral-pallidoluysian atrophy (DRPLA) and found that truncated DRPLA proteins containing the expanded polyglutamine stretch, but not the full-length protein, form peri- and intra-nuclear aggregates consisting of filaments and concomitant apoptosis. The apoptotic cell death was partially suppressed by transglutaminase inhibitors, cystamine and monodansyl cadaverine, raising the possibility of involvement of transglutaminase reaction. The results may provide a potential basis for the development of therapeutic measures for CAG repeat expansion diseases.

Remedy for CAG repeat expansion diseases

A method for specifically diagnosing spinocerebellar ataxia type 2 (SCA2) is disclosed. In the method of the present invention, PCR is carried out using a first primer which hybridizes with a part of the nucleotide sequence shown in SEQ ID NO:,, a second primer which hybridizes with a part of the nucleotide sequence shown in SEQ ID NO:,, and a test DNA as a template, and the number of CAG repeats is measured in the amplified PCR product. Since the numbers of CAG repeat in the genes of SCA2 patients are not less than 35 while those of normal individuals are 15 to 24, diagnosis of SCA2 can be carried out by the method of the present invention.

Method for diagnosing spinocerebellar ataxia type 2 and primers therefor

A novel protein of GIF having growth-inhibitory action, which is present in the brain of normal subjects but absent in the brain of patients with Alzheimer disease, was cloned from a human-cerebral cDNA library and human genomic DNA library. Further, Escherichia coli was transformed with a vector integrated by the cDNA to express GIF. The DNA coding for the cloned GIF can be used in the genetic diagnosis and gene therapy for Alzheimer disease, and the expression of the DNA in the transformant can bring about a large production of GIF.

Growing community of inventors

Niigata, Japan

Shoji Tsuji