| Autor: |
Youjin Wang, Ana Best, Roberto Fernández‐Torrón, Rotana Alsaggaf, Mikel Garcia‐Puga, Casey L. Dagnall, Belynda Hicks, Mone’t Thompson, Ander Matheu Fernandez, Miren Zulaica Ijurco, Mark H. Greene, Adolfo Lopez de Munain, Shahinaz M. Gadalla |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 126-131 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2328-9503 |
| DOI: |
10.1002/acn3.50954 |
| Popis: |
Abstract Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in baseline leukocyte relative telomere length (RTL) was noted, the data suggested an accelerated RTL attrition in DM1 (discovery cohort: T/S change/year = −0.013 in DM1 vs. −0.005 in controls, P = 0.04); similar trend was noted in validation cohort. Further investigations are needed to examine the role of TL in the pathophysiology of DM1. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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