19 research outputs found

    Exercise-induced telomerase gene expression is dependent on age and gender

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    The ability to repair cellular damage is reduced with aging, resulting in increased cellular senescence. Telomeres, the protective caps of the chromosome, shorten as cells divide but the rate of telomere attrition is regulated by two proteins: telomerase and shelterin. An increase in telomerase activity could slow down the rate of telomere shortening, while shelterin prevents telomere elongation by blocking telomerase. Acute exercise stimulates telomerase in young men, as measured by increased expression of telomerase reverse transcriptase (hTERT). The aim of the present study was to investigate age-related differences in telomerase and shelterin response to exercise. We hypothesized that acute exercise would stimulate an increase in telomerase activity without an increase in activity of shelterin in both young and older individuals and that the hTERT response would be attenuated with aging. Young (22 ±2y, n=11) and older (60 ±2y, n=8) men and women performed a 30-minute high intensity interval cycling exercise and blood was collected before and at 30, 60, and 90 minutes after exercise. Gene expression of hTERT and TRF2 (telomere repeat binding factor 2, a shelterin protein) were measured in peripheral blood mononuclear cells (PBMCs) as markers of telomerase and shelterin activity, respectively. Additionally, gene expression of interleukin-6 (IL- 6) was measured as a positive control of the exercise stimulus. The trial induced a significant hTERT response in the cohort as a whole (p<0.05) with a greater increase in the young as compared to the older group (time-by-age group interaction p<0.05). As expected TRF2 did not change in response to the trial, however older individuals had significantly higher TRF2 response at +60 min (p<0.05). There was a significant time-by-age group interaction for IL-6 gene expression (p=0.048). These data support our hypothesis that telomerase gene expression attenuates with age in response to high intensity exercise. Unexpectedly, there was a gender difference where men had significantly greater hTERT (p<0.05) and TRF2 (p<0.05) responses compared to women, regardless of age. The role of gender was a novel finding and should be explored in future research

    Tracking the Web Visibility of North Country Communities

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    In an age of increasing reliance on the World Wide Web for researching destination information, geographic communities that once relied on conventional mass media for self promotion now find themselves obligated to maintain a virtual presence. Our North Country-Adirondack communities have the tools to make their defining regional features known to Web navigators around the world. But are community stakeholders indeed working toward a virtual identity that is commensurate with the region\u27s physical reality, ensuring they are sufficiently present, visible, and presented online? This article reports the outcomes of Phase I of a long-term Community Web Visibility project, focusing on one fundamental component of community virtual identity - Visibility. Visibility is an important indication of the comparative virtual area that any community inhabits on the Web. The discussion of results reveals a connection between Web visibility, online identity, and a community\u27s potential for self promotion and economic development

    Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

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    Rare single-gene disorders cause chronic disease. However, half of the 6,000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (CKD) in children but are notoriously difficult to diagnose. Whole exome resequencing facilitates identification of recessive disease genes. However, its utility is impeded by the large number of genetic variants detected. We here overcome this limitation by combining homozygosity mapping with whole exome resequencing in 10 sib pairs with a nephronophthisis-related ciliopathy, which represents the most frequent genetic cause of CKD in the first three decades of life. In 7 of 10 sib-ships with a histologic or ultrasonographic diagnosis of nephronophthisis-related ciliopathy we detect the causative gene. In six sib-ships we identify mutations of known nephronophthisis-related ciliopathy genes, while in two additional sib-ships we found mutations in the known CKD-causing genes SLC4A1 and AGXT as phenocopies of nephronophthisis-related ciliopathy. Thus whole exome resequencing establishes an efficient, non-invasive approach towards early detection and causation-based diagnosis of rare kidney diseases. This approach can be extended to other rare recessive disorders, thereby providing accurate diagnosis and facilitating the study of disease mechanisms
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