1993 Fiscal Year Final Research Report Summary
Molecular biological studies of mitochondrial diseases
| Project/Area Number |
03454269
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Jichi Medical School |
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Principal Investigator |
MOMOI Mariko Jichi Medical School, 医学部, 助教授 (90166348)
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| Co-Investigator(Kenkyū-buntansha) |
OGURO Noriko Jichi Medical School, 医学部, 助手 (10214107)
ICHIHASI Kou Jichi Medical School, 医学部, 助手 (70213006)
SHIMOIZUMI Hideo Jichi Medical School, 医学部, 助手 (30196547)
KAGAWA Yasuo Jichi Medical School, 医学部, 教授 (30048962)
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| Project Period (FY) |
1991 – 1993
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| Keywords | mitochondrial disease / mitochondrial gene / maternal transmission / heteroplasmy / MELAS |
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| Research Abstract |
Molecular pathology of mitochondrial diseases wewe studied.
(1)Clone muscle cells isolated from a patient with MELAS were analyzed, which clarified that the affected mitochondrial function was caused by single point mutation in the mitochondrial gene at 3243.
(2)The mutant gene of the family members of MELAS were quantitatively studies, which resulted in the conclusion that the mutant gene was originated from the mother and selectively amplified through generations.
(3)The mutant genes in a single blood cell were quantitatively analyzed, which revealed that the human cells were heteroplasmic as for the mutant mitochondrial genes.
(4)The improved electron cytochemical method was developed to reveal the in situ expression of the mutant mitochondrial gens in a patient's cells.
These studies described above revealed the molecular pathology of MELAS The profile of the distribution of the mutant mitochondrial genes suggested that the quontity of the mutant genes in a certain population of blood cells did not straightly indicate the severity and even the expression of the disease.
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