| Project/Area Number |
26462467
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Urology
|
|---|
| Research Institution | National Institute of Advanced Industrial Science and Technology |
|---|
Principal Investigator |
Takasaki Nobuyoshi 国立研究開発法人産業技術総合研究所, 創薬基盤研究部門, 招聘研究員 (00342808)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
成松 久 国立研究開発法人産業技術総合研究所, 創薬基盤研究部門, 招聘研究員 (40129581)
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
ISHIKAWA Hiromichi 東京歯科大学, 歯学部, 教授 (60112679)
|
|---|
| Research Collaborator |
HAGIUDA Jun
|
|---|
| Project Period (FY) |
2014-04-01 – 2017-03-31
|
| Project Status |
Completed (Fiscal Year 2016)
|
| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
|
|---|
| Keywords | 男性不妊症 / 精子無力症 / アンドロロジー / 遺伝子変異 / 原因因子診断法 |
|---|
| Outline of Final Research Achievements |
Asthenozoospermia, defined as low sperm motility, is commonly observed in infertile men. However, very few causative gene mutations in human patients have been identified because an efficient detection method has not been established. To identify mutations in GALNTL5 which is a functional gene for the maintenance of sperm motility, we screened the sperm samples from 208 infertile men mainly diagnosed as asthenozoospermia by detecting an abnormal reduction in the abundance of GALNTL5 protein and accompanying reductions in the abundances of other marker proteins, we consequently identified a patient with asthenozoospermia carrying a heterozygous point deletion of GALNTL5 in 50% of the spermatozoa. Furthermore, using the next-generation sequencing, another rare case of mutation on GALNTL5 gene was detected only in the sperm cells at low frequency but not in the somatic blood cells of a patient diagnosed with asthenozoospermia.
|
