2017 Fiscal Year Final Research Report
Basic and clinical research for clarify the pathophysiology and development of new terapeutic trial for Rett syndrome
| Project/Area Number |
15K09608
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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 |
Pediatrics
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| Research Institution | Kurume University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
高橋 知之 久留米大学, 医学部, 准教授 (20332687)
御船 弘治 久留米大学, 医学部, 准教授 (70174117)
山下 裕史朗 久留米大学, 医学部, 教授 (90211630)
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| Research Collaborator |
Yuge Kotarou 久留米大学, 医学部, 助教 (20624472)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | Rett症候群 / 発達障害 / 自閉症スペクトラム障害 / MECP2遺伝子 / STXBP1遺伝子 / HDAC8遺伝子 / 不整脈 / 肺炎 |
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| Outline of Final Research Achievements |
Rett syndrome (RTT) is a neurodevelopmental disorder, caused by MECP2 gene mutation. Patients showed dystonia, and tremor.We speculated that ghrelin may play an important role in RTT. We found that ghrelin markedly improved dystonia, tremor in 2 patients and constipation improved all 4 patients. We founded that RTT caused by a novel STXBP1 mutation, and also due to a mutation in HDAC8 gene.
Previous studies reported cardiac arrhythmias plays an important role in sudden death of RTT. We detected methylation of the CpG islands in the Tbx5 locus. Our results suggest that MeCP2 is an important regulator of the gene-expression program responsible for maintaining normal cardiac development and cardiomyocyte structure.
Respiratory infection is the most common cause of death in RTT. Our results indicated that aspiration might be a cause of Mecp2-null mice. MeCP2 deficiency affected the expression of several neuromodulator genes in the lower brainstem, especially SP is involved.
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| Free Research Field |
医師薬学
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