Exome sequencing of three cases of familial exceptional longevity

2014

Exceptional longevity (EL) is a rare phenotype that can cluster in families, and co-segregation of genetic variation in these families may point to candidate genes that could contribute to extended lifespan. In this study, for the first time, we have sequenced a total of seven exomes from exceptionally long-lived siblings (probands ≥ 103 years and at least one sibling ≥ 97 years) that come from three separate families. We have focused on rare functional variants (RFVs) which have ≤ 1% minor allele frequency according to databases and that are likely to alter gene product function. Based on this, we have identified one candidate longevity gene carrying RFVs in all three families, APOB. Inter…

Upregulation of microRNAs by centenarians

2013

Identificación de polimorfismos de nucleótido simple en centenarios

2016

Resumen Introduccion La longevidad viene determinada por la genetica propia de cada especie y por factores externos, tales como nutricionales, ambientales, sociales, etc. Sin embargo, los individuos mas longevos se caracterizan por presentar una mayor adaptacion al entorno condicionada predominantemente por su propia genetica. Dentro de una misma poblacion con relativa homogeneidad genotipica, podemos encontrar cambios sutiles en la secuencia de ADN que afectan unicamente a un nucleotido. Estos cambios denominados polimorfismos de nucleotido simple ( Single Nucleotide Polimorphisim [SNP]) se encuentran con una prevalencia mayor al 1-5% de la poblacion. Por ello, nos planteamos estudiar en i…

Human exceptional longevity: transcriptome from centenarians is distinct from septuagenarians and reveals a role of Bcl-xL in successful aging.

2016

24 páginas, 7 figuras. Borras C, et al. Human exceptional longevity: transcriptome from centenarians is distinct from septuagenarians and reveals a role of Bcl-xL in successful aging. Aging (Albany NY). 2016 Oct 28;8(12):3185-3208. doi: 10.18632/aging.101078.

Role of the aryl hydrocarbon receptor (AhR) signaling pathway in exceptional longevity in humans

2018

Centenarians are the best example of successfully aging in humans. Thus, the characterization of the biological processes and pathways in this population is an excellent strategy to understand the lifespan extension. The aryl hydrocarbon receptor (AhR) is a ligand-activated-transcription factor historically known for regulating expression of several important drug-detoxifying proteins. But recently its role in the immune response and in cellular homeostasis has been recognized. Furthermore, AhR is activated in C. Elegans in extreme longevity due to a dietary restriction. We report here results of a whole transcriptome analysis of centenarians. The main biological process was the immune resp…