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A Coruña, Spain

Gierman H.J.,Stanford University | Fortney K.,Stanford University | Roach J.C.,Institute for Systems Biology | Coles N.S.,Gerontology Research Group | And 9 more authors.
PLoS ONE | Year: 2014

Supercentenarians (110 years or older) are the world's oldest people. Seventy four are alive worldwide, with twenty two in the United States. We performed whole-genome sequencing on 17 supercentenarians to explore the genetic basis underlying extreme human longevity. We found no significant evidence of enrichment for a single rare protein-altering variant or for a gene harboring different rare protein altering variants in supercentenarian compared to control genomes. We followed up on the gene most enriched for rare protein-altering variants in our cohort of supercentenarians, TSHZ3, by sequencing it in a second cohort of 99 long-lived individuals but did not find a significant enrichment. The genome of one supercentenarian had a pathogenic mutation in DSC2, known to predispose to arrhythmogenic right ventricular cardiomyopathy, which is recommended to be reported to this individual as an incidental finding according to a recent position statement by the American College of Medical Genetics and Genomics. Even with this pathogenic mutation, the proband lived to over 110 years. The entire list of rare protein-altering variants and DNA sequence of all 17 supercentenarian genomes is available as a resource to assist the discovery of the genetic basis of extreme longevity in future studies. ©- 2014 Gierman et al. Source


Millan-Calenti J.C.,Gerontology Research Group | Tubio J.,Gerontology Research Group | Pita-Fernandez S.,Complejo Hospitalario Universitario | Gonzalez-Abraldes I.,Gerontology Research Group | And 3 more authors.
Archives of Gerontology and Geriatrics | Year: 2010

The aim of this study is to establish the existing relationship among variables referred to the person, specifically age and gender, and the functional dependence in basic ADL and in IADL, as well as the possible relationship it has with the increase of morbidity and mortality in a random sample of 598 individuals older than 65 years. Of these individuals, 34.6% were categorized as dependent for at least one ADL, and 53.5% if we refer to IADL. Regarding the ADL, the risk of dependence increases (odds ratio = OR = 1.089) per year of age, (OR = 2.48) in women's case; while there is an IADL correlation between age and the score (r = -0.527; p < 0.001). A relationship exists between dependence and the days of hospitalization (for ADL: r = -0.12, p = 0.018 and IADL: r = -0.97, p = 0.003), the number of visits to the doctor (ADL: r = -0.27, p < 0.001; IADL: r = -0.25, p < 0.001) or the presence of concomitant pathologies such as dementia (ADL: p < 0.001; IADL: p < 0.001). There is a significant association between age, gender and dependence, as well as between dependence and morbidity and mortality, so that dependence could be used as a predictor of both. © 2009 Elsevier Ireland Ltd. All rights reserved. Source


Millan-Calenti J.C.,Gerontology Research Group | Sanchez A.,Gerontology Research Group | Lorenzo-Lopez L.,Gerontology Research Group | Cao R.,Gerontology Research Group | Maseda A.,Gerontology Research Group
International Journal of Aging and Human Development | Year: 2013

The influence of social support dimensions (the extent of contact with others, the satisfaction with contacts, and the availability of help if sick or disabled) in elderly people with cognitive impairment (COG), depressive symptoms (DEP), or the co-occurrence of these symptoms (COG-DEP) was assessed in a cross-sectional analysis of a representative sample of 579 individuals aged 65 years and older. A lower extent of contact was related to COG (OR: 2.26). Fair satisfaction with contacts was related to DEP (OR: 2.88) and COG-DEP (OR: 4.22). A low level of satisfaction with contacts was an important predictor for DEP (OR: 7.99) and COG-DEP (OR: 7.88). Therefore, different dimensions of social support were independently correlated with different aspects of mental health. Quantitative aspects of social support were significantly linked to the presence of cognitive impairment. Satisfaction with social support affected depressive symptoms both alone and when they co-occurred with cognitive impairment. © 2013, Baywood Publishing Co., Inc. Source

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