Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study
| العنوان: | Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study |
|---|---|
| المؤلفون: | Adolfo López de Munain, Youjin Wang, Shahinaz M. Gadalla, Mikel García-Puga, Rotana Alsaggaf, Casey L. Dagnall, Ana F. Best, Mone’t Thompson, Mark H. Greene, Miren Zulaica Ijurco, Belynda Hicks, R. Fernández-Torrón, Ander Matheu Fernandez |
| المصدر: | Addi. Archivo Digital para la Docencia y la Investigación instname Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 126-131 (2020) Annals of Clinical and Translational Neurology |
| بيانات النشر: | Wiley, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Oncology, Premature aging, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Pilot Projects, Neurosciences. Biological psychiatry. Neuropsychiatry, Brief Communication, Myotonic dystrophy, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Leukocytes, medicine, cancer-risk, Humans, Myotonic Dystrophy, oxidative stress, In patient, RC346-429, Telomere Shortening, business.industry, General Neuroscience, Autosomal dominant trait, Middle Aged, medicine.disease, Pathophysiology, Telomere, 030104 developmental biology, age, Cohort, Female, Neurology (clinical), Neurology. Diseases of the nervous system, Brief Communications, business, 030217 neurology & neurosurgery, RC321-571, ctg repeat |
| الوصف: | 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. The study was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health. |
| وصف الملف: | application/pdf |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db23870843fcbc379b4353c7efd4cd9Test http://hdl.handle.net/10810/42159Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....5db23870843fcbc379b4353c7efd4cd9 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |