| Project/Area Number |
02454271
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | KUMAMOTO UNIVERSITY |
|---|
Principal Investigator |
MIIKE Teruhisa Kumamoto University School of Medicine, Department of Child Development, Professor, 医学部, 教授 (90040617)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
SUGINO Shigeto University Hospital Assistant, 医学部・附属病院, 助手 (60226446)
IYAMA Kenichi Kumamoto University Graduate School of Medical Sciences Department of Neuroscien, 医学部, 助教授 (10040536)
|
|---|
| Project Period (FY) |
1990 – 1992
|
| Project Status |
Completed (Fiscal Year 1992)
|
| Budget Amount *help |
¥4,300,000 (Direct Cost: ¥4,300,000)
Fiscal Year 1992: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1991: ¥400,000 (Direct Cost: ¥400,000)
Fiscal Year 1990: ¥3,400,000 (Direct Cost: ¥3,400,000)
|
|---|
| Keywords | Duchenne muscular dystrophy / dystrophin / RT-PCR / synapses / retina / neuron / Nerve growth factor receptor / dystrophin-related protein / Duchenne型筋ジストロフィ-症 / 抗ジストロフィン抗体 / 免疫組織化学 / 免疫電気泳動 / dystrophinーrelated protein / Duchenne型筋ジストロフィ- |
|---|
| Research Abstract |
(1) Dystrophin and Dystophin-related protein: To determine the localization and functional significance of dystrophin, we studied various tissues from almost the entire body of control and mdx mice, with immunohistochemically, immunoelectrophoretically, using eight kinds of monoclonal and polyclonal antibodies against dystrophin. We confirmed that dystrophin is really exist on neurons and synapses such as neuromuscular junctions, myotendinous junctions, and intrafusal muscle fibers. We also found dystrophin and its four isoforms on retina with RT-PCR method. The localization of dystrophin in central nervous system and synapses suggests its physiological function in the conduction system rather than a mechanical one. Dystrophin-related protein (DRP) is also exist on the same regions as dystrophin dose. DRP seems to increase on synapses in mdx tissue as compensatory reaction for absent of dystrophin. The result also suggest that dystrophin and DRP have the same physiological function in the conduction system.
(2) Nerve growth factor receptor: Immunohistochemical and immunoelectrophoretical studies were performed using nerve growth factor receptor (NGFR) antibody for muscle tissues from patients with muscular dystrophies. The results showed strong NGFR immunoreactivity on the tunica adventitia of blood vessels in biopsied muscle specimens from muscular dystrophy patients, but it was almost absent in specimens from non-diagnostic controls. This suggests a process in the sympathetic nervous system involving blood vessels in muscular dystrophies.
(3) Detection of point mutation and carrier: We demonstrated its effectiveness of TOP-analysis to detect nonsense mutations in both DMD-patients and carrier females on material derived from blood samples.
|
