Whether hyperactivity disorder is genetic diseases or not? The establishment of gene diagnosis for hyperactivity disorder due to CIN85 abnormality.

2014 Fiscal Year Final Research Report

• Project/Area Number: 24651219
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Medical genome science
• Research Institution: Gunma University
• Principal Investigator: SHIMOKAWA Noriaki 群馬大学, 医学(系)研究科(研究院), 准教授 (90235680)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: CIN85 / 多動症 / 精神遅滞

Outline of Final Research Achievements

We found that human CIN85 gene exists to the short-arm of X chromosome. We also found that CIN85 co-localizes in neuronal dendritic spines with Oligophrenin 1 that is a responsible gene for X-linked mental retardation and with PSD-95 that is one of scaffold protein. Moreover, we had read the DNA sequence of CIN85 gene (approximately 360.7 kbp) from the genome of patients of hyperactivity disorder and X-linked mental retardation family that has been provide from Gottingen University and compared the sequence with that of normal person. As a result, we found a deficit of 31 bases to 13th exons of several male patients. This defect was deleted proline residues of the Proline-rich region required for binding with other proteins. In patients with X-linked mental retardation, loss of function of the Proline-rich region seems to be induced the disturbance to intracellular signal transduction of normal brain function.

Free Research Field

神経内分泌