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Aging in Fabry Disease: Role of Telomere Length, Telomerase Activity, and Kidney Disease.
Cokan Vujkovac, Andreja; Novakovic, Srdjan; Vujkovac, Bojan; Stevanec, Milan; Skerl, Petra; Sabovic, Miso.
Afiliación
  • Cokan Vujkovac A; Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia, andreja.cokan@guest.arnes.si.
  • Novakovic S; Institute of Oncology Ljubljana, Department of Molecular Diagnostics, Ljubljana, Slovenia.
  • Vujkovac B; Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.
  • Stevanec M; Institute of Anatomy, Medical Faculty, Ljubljana, Slovenia.
  • Skerl P; Institute of Oncology Ljubljana, Department of Molecular Diagnostics, Ljubljana, Slovenia.
  • Sabovic M; Department of Vascular Diseases, University of Ljubljana Medical Center, Ljubljana, Slovenia.
Nephron ; 144(1): 5-13, 2020.
Article en En | MEDLINE | ID: mdl-31509825
INTRODUCTION: The lifespan of patients with Fabry disease (FD) is shorter than that seen in the general population. Leukocyte telomere length (LTL) and telomerase activity (TA) are potential markers of biologic aging. The aim of the current study was to determine the LTL and TA in FD patients and to assess the correlation between LTL and TA and renal involvement. METHODS: We included 33 FD patients and 66 healthy matched controls. LTL and TA were measured using a quantitative PCR assay and gene expression assay. FD patients were stratified by renal function (estimated glomerular filtration rate [eGFR] higher or lower than 60 mL/min/1.73 m2) and proteinuria (urine protein creatinine ratio higher or lower than 0.5 g/g). RESULTS: LTL was significantly shorter (0.69 vs. 0.73, p = 0.015) and TA significantly higher (1.55 vs. 1.19, p = 0.047) in FD patients compared to controls. Males with FD had significantly shorter LTL (p = 0.020) and lower, but non-significant, TA compared to male controls (p = 0.333). Female FD patients had similar LTL (p = 0.285) but significantly higher TA compared to female controls (p = 0.005). LTL was not influenced by eGFR, but TA was significantly lower in the low eGFR group (p = 0.003). CONCLUSIONS: FD patients have significantly shorter LTL, but significantly higher TA compared to healthy controls. Increased TA activity in FD patients could be the compensation mechanism to prevent LTL decrease (and accelerated ageing), which seems to be exhausted at the advanced stage of renal disease.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Envejecimiento / Telómero / Enfermedad de Fabry / Telomerasa / Enfermedades Renales Tipo de estudio: Observational_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Nephron Año: 2020 Tipo del documento: Article Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Envejecimiento / Telómero / Enfermedad de Fabry / Telomerasa / Enfermedades Renales Tipo de estudio: Observational_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Nephron Año: 2020 Tipo del documento: Article Pais de publicación: Suiza