1995 Fiscal Year Final Research Report Summary
DNA diagnosis of congenital myotonic dystrophy
| Project/Area Number |
05670685
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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 |
Pediatrics
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| Research Institution | Sapporo Mecial University |
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Principal Investigator |
TACHI Nobutada School of Health Sciences, Sapporo Medical University, Assistant Professor, 保健医療学部, 助教授 (80136944)
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| Project Period (FY) |
1993 – 1995
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| Keywords | Congenital myotonic dystrophy / DNA diagnosis / Myotonic dystrophy protein kinase / meiotic instability |
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| Research Abstract |
We have analyzed CTG repeat expansion in 55 myotonic dystrophy (DM) patients, including 25 congenital DM by Southern hybridization using DM gene specific probe (p5B1.4). The CTG repeat was expanded in DM patients when transmitted from parent to child severity. DM families showed genetic anticipation, an increase in disease severity and earlier age of onset in successive generations. The transmission of congenital DM was considered exclusively maternal. We present the first congenital DM patients transmitted from asymptomatic father on the basis of molecular analysis. Based on analysis of CTG repeat in various tissues from a patient of congenital DM,the presence of somatic instability was disclosed.
We have analyzed the size of the CTG repeat of DNAs extracted from skeletal muscle and lymphocytes in congenital DM patients. The size from skeletal muscle showed an increase of about 1.5kb to 3.5kb larger than that from lymphocytes in all patients.
We present expression of DM-PK on biopsied muscles and cultured muscles by immunocytochemistry using antibody aganist synthetic DM-PK peptide antigen. DM-PK was observed in neuromuscular junctions, muscle spindle, and sarcolemma on biopsied muscles. On cultured muscles, DM-PK was expressed in cytoplasma of myoblast and myotube.
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