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Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.
Miller, Jacob N; van der Plas, Ellen; Hamilton, Mark; Koscik, Timothy R; Gutmann, Laurie; Cumming, Sarah A; Monckton, Darren G; Nopoulos, Peggy C.
Afiliação
  • Miller JN; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
  • van der Plas E; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
  • Hamilton M; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
  • Koscik TR; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
  • Gutmann L; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
  • Cumming SA; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
  • Monckton DG; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
  • Nopoulos PC; Department of Psychiatry (J.N.M., E.P., T.R.K., P.C.N.), University of Iowa Hospitals and Clinics; West of Scotland Clinical Genetics Service (M.H.), Queen Elizabeth University Hospital; Institute of Molecular, Cell and Systems Biology (M.H., S.A.C., D.G.M.), College of Medical, Veterinary and Life
Neurol Genet ; 6(5): e504, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32851192
OBJECTIVE: We tested the hypothesis that variant repeat interruptions (RIs) within the DMPK CTG repeat tract lead to milder symptoms compared with pure repeats (PRs) in myotonic dystrophy type 1 (DM1). METHODS: We evaluated motor, neurocognitive, and behavioral outcomes in a group of 6 participants with DM1 with RI compared with a case-matched sample of 12 participants with DM1 with PR and a case-matched sample of 12 unaffected healthy comparison participants (UA). RESULTS: In every measure, the RI participants were intermediate between UA and PR participants. For muscle strength, the RI group was significantly less impaired than the PR group. For measures of Full Scale IQ, depression, and sleepiness, all 3 groups were significantly different from each other with UA > RI > PR in order of impairment. The RI group was different from unaffected, but not significantly different from PR (UA > RI = PR) in apathy and working memory. Finally, in finger tapping and processing speed, RI did not differ from UA comparisons, but PR had significantly lower scores than the UA comparisons (UA = RI > PR). CONCLUSIONS: Our results support the notion that patients affected by DM1 with RI demonstrate a milder phenotype with the same pattern of deficits as those with PR indicating a similar disease process.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article