Analysis of respiratory chain complex assembly in mitochondrial disorders
Project/Area Number |
25461539
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Teikyo University (2014-2015) The University of Tokyo (2013) |
Principal Investigator |
|
Co-Investigator(Renkei-kenkyūsha) |
GOTO Yuichi 独立行政法人国立精神・神経医療研究センター, 疾病研究第二部, 部長 (20225668)
|
Project Period (FY) |
2013-04-01 – 2016-03-31
|
Project Status |
Completed (Fiscal Year 2015)
|
Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
|
Keywords | ミトコンドリア異常症 / 呼吸鎖複合体 / ミトコンドリアDNA / アセンブリーファクター / Blue Native電気泳動 / 遺伝 / 先天代謝異常 / ミトコンドリア病 / Blue Native 電気泳動 |
Outline of Final Research Achievements |
To make a precise and correct diagnosis of mitochondrial disorders, we performed Blue Native Polyacrylamide Gel Electrophoresis (BN-PAGE) using mitochondria derived from patients combined with analyses of DNA including mitochondrial DNA (mtDNA). We identified novel mtDNA mutations such as m.9155A>G mutation and nuclear DNA mutations such as POLG mutations in patients with mitochondrial respiratory chain disorders. As for common mtDNA mutations, such as the m.3243A>G mutation, we analyzed the impacts of the mutations on clinical features. We also investigated mitochondrial respiratory chain complex assembly process in the patient carrying FOXRED1 (FAD-dependent oxidoreductase domain-containing protein 1) mutations using BN-PAGE and our study revealed that FOXRED1 is a crucial component in the productive assembly of complex I. In conclusion, a combination of BN-PAGE and DNA analyses is useful and powerful to make prompt diagnoses of patients with mitochondrial disorders.
|
Report
(4 results)
Research Products
(10 results)
-
[Journal Article] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2016
Author(s)
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
-
Journal Title
Eur J Hum Genet
Volume: 24(1)
Issue: 1
Pages: 129-134
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
-
-
-
-
-
-
-
-