| Co-Investigator(Kenkyū-buntansha) |
MATSUSHITA Tadashi University Hospital, Assistant Professor, 医学部附属病院, 講師 (30314008)
TAKAGI Akira School of Medicine, Research Associate, 医学部, 助手 (30135371)
YAMAMOTO Koji University Hospital, Assistant Professor, 医学部附属病院, 講師 (90362251)
|
|---|
| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2006: ¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 2005: ¥1,900,000 (Direct Cost: ¥1,900,000)
|
|---|
| Research Abstract |
May-Hegglin anomaly, a typical disease of the macrothrombocytopenia characterized in the giant platelet, the decrease of platelets, and the white blood corpuscle inclusion body, is an abnormality syndrome of the MYH9 gene coding the A type cell myosin heavy chain (NMMHCA). The problem diagnosed as the idiopathic thrombocytopenic purpura (ITP) is pointed out as for the macrothrombocytopenia, and the establishment of adequate discrimination diagnostics is required to evade needless treatment.
In this research, the type of the NMMHCA inclusion body on the peripheral-blood specimen of the congenital macrothrombocytopenia patient, from which the MYH9 abnormality was doubted by the immunostaining analysis using the anti-NMMHCA antibody, was analyzed, and the gene abnormality was identified in the area from the type of the immunostaining result. Thus, it was shown that the immunostaining analysis of NMMHCA was useful as a handy screening method of the MYH9 abnormality syndrome. In addition, it was suggested that NMMHCA was an indispensable molecule to growth at the early stage of mouse embryo, because the homozygous NMMHCA knock out mouse, which the MYH9 gene was destroyed by the gene-trap method, was embryonic lethal. Although the auditory brain stem response (ABR) decrease seemed to be an symptom corresponding to the Alport symptom of the MYH9 abnormality in a heterozygous mouse, there was no abnormality in the HE staining and electron microscope image. It seemed that the knock in mouse analysis was necessary to investigate the phenotype of MYH9 abnormality. On the other hand, it was suggested that the heterozygous R702C knock in mouse was extremely low birth rate in the chimera mouse mating (probably because of eating by mother?), and it had a weak constitution compared with a wild type.
|
