A novel factor associated with TSC I/II may modulate neuronalsymptoms in TSC patients
| Project/Area Number |
22591219
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Dermatology
|
|---|
| Research Institution | Osaka University |
|---|
Principal Investigator |
KANEDA Mari 大阪大学, 医学系研究科, 講師 (70397644)
|
|---|
| Project Period (FY) |
2010 – 2012
|
| Project Status |
Completed (Fiscal Year 2012)
|
| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
|
|---|
| Keywords | mTOR / 結節性硬化症 / p40 / 神経皮膚症候群 / 精神神経疾患 / 腫瘍形成 / TSC1 / TSC2 / 精神神経症状 / 腫瘍 / 色素細胞 |
|---|
| Research Abstract |
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the hamartomas. Two genes, TSCI and TSCII, which encode hamartin and tuberin respectively, have been shown to be responsible for TSC. Hamartin and tuberin are associated with each other physically in vivo, and function in the same complex. We had identified that a 40 kD protein, p40, recognized by one monoclonal antibody, was significantly reduced in TSC patient cells. To compare the relation between clinical symptoms and loss of p40, the amount of p40 in the peripheral lymphocytes from TSC patients was related to the clinical symptoms, especially the neural symptoms of TSC such as convulsion and mental retardation. In this report, we showed the interaction of tuberin and/or hamartin and other proteins involved in the mTOR system with p40. To examine the association of p40 and tuberin or hamartin, knocked-down experiments and coprecipitation experiments were conducted. As a result, p40 was positively related to FKBP32 and FKBP12 and was directly associated with hamartin and indirectly with tuberin presumably via hamartin.
|
Report
(4 results)
Research Products
(58 results)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[Journal Article] Clinical and genetic features of 20 japanese patients with vascular-type Ehlers-Danlos syndriome.2010
Author(s)
himadaY, KoshoT, Wataya-Kaneda M, Funakoshi M, SuzukiT, Hayashi S, MitsuhashiY, I isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A
-
Journal Title
Br J Dermatol
Volume: 163
Pages: 704-710
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[Presentation] 内頸動脈海綿静脈洞瘻で発症した血管型Ehlers-Danlos症候群の一例2010
Author(s)
浅井克則, 豊田真吾, 小林真紀, 井間博之, 尾原信行, 早川航一, 岩本文徳, 川口哲, 若山暁, 金田眞理, 吉峰俊樹
Organizer
第26回日本脳神経血管内治療学会学術総会
Place of Presentation
東京
Year and Date
2010-11-27
Related Report
-
-
[Presentation] 内頸動脈海綿静脈洞瘻で発症した血管型Ehlers-Danlos症候群の一例2010
Author(s)
浅井克則, 豊田真吾, 藤本康倫, 枝川光太朗, 早川航一, 星拓, 岩本文徳, 川口哲, 若山暁, 金田眞理, 吉峰俊樹
Organizer
2010年脳卒中学会総会
Place of Presentation
盛岡
Related Report
-
-
-
-
-
-
-
-
