Telomeres are DNA-protein structures found at the ends of chromosomes whose function is to maintain genomic stability and cellular life. Their length is a hereditary biomarker that can provide information about genetic aging.
Telomere length
Telomeres (from the Greek "telos" meaning "end" and "meros" meaning "part") are structures found at the ends of all eukaryotic chromosomes. They consist of highly repetitive non-coding DNA whose main function is the structural stability of chromosomes and the regulation of proper cell division. They protect the ends of the chromosomes to prevent them from wearing out, however, with cell divisions they become progressively shorter until they can no longer fulfill their function and the cell dies. This shortening is responsible for cellular senescence.
Numerous studies show that telomerase deficiency, the enzyme responsible for its synthesis, and the presence of shorter telomeres induce the loss of tissue regeneration capacity. All this has been related to various pathologies characterized by premature aging such as dyskeratosis congenita, pulmonary fibrosis or aplastic anemia, among others.
Telomere shortening is not only influenced by the number of cell replications. Other environmental factors, such as diet or stress, can induce shortening. In addition, there is an important difference in the telomeres of men and women, being longer in the latter most probably due to the presence of estrogens.
Telomeres are present in all chromosomes of all cells in the body, however, the length of leukocyte telomeres has been proposed as a general marker of telomere status in the whole body.
Number of observed variants
13.5 million variants
Number of risk loci
20 loci
Genes analyzed
Bibliography
Li C, Stoma S, Lotta LA, Warner S, et al. Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length. Am J Hum Genet. 2020 Mar 5;106(3):389-404.
Rossiello F, Jurk D, Passos JF, d'Adda di Fagagna F. Telomere dysfunction in aging and age-related diseases. Nat Cell Biol. 2022 Feb;24(2):135-147.
Telomere. National Human Genome Research Institute (NIH) [July 2024].
