2013 Fiscal Year Final Research Report
MBTPS2 mutation causes BRESEK/BRESHECK syndrome
| Project/Area Number |
23592636
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatric surgery
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| Research Institution | Institute for Developmental Research, Aichi Human Service Center |
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Principal Investigator |
YAMADA Kenichiro 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 主任研究員 (30291173)
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| Project Period (FY) |
2011 – 2013
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| Keywords | MBTPS2 / BRESHECK/IFAP症候群 / 小胞体ストレス / 巨大結腸症 / 魚鱗癬 |
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| Research Abstract |
In this study, we have identified the p.Arg429His mutation in MBTPS2 encoding membrane-bound transcription factor peptidase, site 2 (S2P) causes BRESEK/BRESHECK syndrome, which is characterized by brain anomaly, intellectual disability, growth retardation, ectodermal dysplasia, vertebral (skeletal) anomaly, Hirschsprung disease, low set and large ears, cryptorchidism, and small-sized kidneys. Mbtps2 knockdown increased the ratio of abnormal cells stained with an anti-activated-caspase-3 antibody. Mbtps2 protein transduces ER stress signals by cleaving and activating the transcriptional factor ATF6. Transfection of activated ATF6 into Mbtps2-knockdown neurons decreased the number of apoptotic cells demonstrating caspase-3 activation.
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Research Products
(10 results)
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[Journal Article] The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations2014
Author(s)
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nish E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N.
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Journal Title
Am J Med Genet A
Volume: in press
Peer Reviewed
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[Journal Article] Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy2014
Author(s)
Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N.
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Journal Title
Am J Med Genet A.
Volume: 164(5)
Pages: 1180-1187
Peer Reviewed
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