1992 Fiscal Year Final Research Report Summary
Epidemiological Survey of Autosomal Recessive Distal Muscular Dystrophy (Miyoshi type)in Japan and Investigation of Gene Anomaly
| Project/Area Number |
03670419
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | The University of Tokushima |
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Principal Investigator |
KAWAI Hisaomi The University of Tokushima,School of Medicine Associate Professor, 医学部, 助教授 (00035461)
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| Co-Investigator(Kenkyū-buntansha) |
AKAIKE Masashi The University of Tokushima,School of Medicine Medical Staff, 医学部附属病院, 医員
MASUDA Kenjiro The University of Tokushima,School of Medicine Assistant Professor, 医学部附属病院, 講師 (00165713)
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| Project Period (FY) |
1991 – 1992
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| Keywords | Muscular dystrophy / Autosomal recessive inheritance / Distal type / Gene anomaly / Chromosome abnormality / Miyoshi type |
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| Research Abstract |
1.Epidemiological and genetico-clinical survey: A nationwide survey of autosomal recessive distalmuscular dystrophy (ARDMD,Miyoshi type) was conducted by sending questionnaires to 56 major neurology centers and by reviewing the literature cases published in the last 15 years including our cases. As a result,75 cases from 54 families were ascertained during the survey in 1991 and 1992.Patients with ARDMD were found throughout the nation except for Hokkaido and Okinawa. Interestingly, 18cases from 9 families were found in Shikoku, 14 cases from 6 families in Hyogo,and 5 cases from 5 families in Tokyo. The age of onset ranged from 9 to 36, with a mean of 20.7 years. The male to female ratio was 1:0.97,the segregation ratio 0.24, and the penetrance 1.0. The mutation ratio was calculated as 2.2X10^<-6>. Cases with proximal atrophy in the early stage,and a form of arising unique to ARDMD were also discovered. Association with fatty liver was noted in several cases. CT and MRI imaging of the
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skeletal muscle revealed preferential involvement of flexor muscles.
2.Chromosome abnormality:Two families from our series had chromosomal abnormalities. The proband of family IT was found to have an abnormality on chromosome 16 (16qh^+). The same chromosome abnormality was also found in his mother, 4 maternal uncles and an aunt. There were no chromosomal abnormalities on the paternal side. There was a mind increase of serum CK activity in his mother and a daughter,which might suggest that they were heterozygous for ARDMD. Although this chromosome abnormality could be an incidental finding,it is conceivable that the proband became homozygous for ARDMD gene because of a mutation in the ARDMD gene on chromosome 16 of the father and a translocation of the same chromosome 16 of the mother. Another family(Ay)was found to have inv(9p+q-) on chromosome 19 in the proband and her mother, and further study is in progress.
3.Gene analysis:Using a probe (pHuR195) which is close to the centromere of chromosome 16, leukocyte DNA from the proband of family IT was analyzed by Southern blotting for deletion or duplication,but was normal.DNA analysis in family Ay is in progress. Less
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