2015 Fiscal Year Final Research Report
Analysis of the relationship between the loss of ER-mitochondria interaction and mitochondrial diseases
| Project/Area Number |
26870545
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
Cell biology
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| Research Institution | Saitama Medical University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Keywords | ミトコンドリア / 小胞体 / ミトコンドリア病 / 遺伝性疾患 |
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| Outline of Final Research Achievements |
Mitochondria are essential for energy production through oxidative phosphorylation and are dynamic organelles that continuously undergo fusion and fission. Mutations in mitochondrial or nuclear genes cause mitochondrial dysfunction in various organs and energy generation disorders. To identify novel causative genes for mitochondrial disorders, we performed whole exome sequencing on affected subjects. I identified compound heterozygous variants in OCIAD2 gene whose product localizes at mitochondria and mitochondria-associated ER membrane (MAM). In the present study, I found apparent loss of protein probably due to the instability of mutant gene products. The elongated and tubular mitochondria were increased in the patient derived fibroblasts. siRNA-mediated knockdown of OCIAD2 also leads to mitochondrial interconnectivity and elongation. These findings indicate that mutations in OCIAD2 cause mitochondrial disorder and defects in mitochondrial fission/fusion.
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| Free Research Field |
生物学・医歯薬学
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