For now, the only diseases clearly caused by shortened telomeres or dysfunctional telomerase are
rare premature aging disorders like dyskeratosis congenita.
Not exact matches
In 1998, Leslie Gordon's toddler son Sam was diagnosed with an exceedingly
rare and invariably fatal disease, Hutchinson - Gilford progeria syndrome, which in many ways resembles
premature aging.
A
rare,
premature aging disease, Hutchinson - Gilford progeria is caused by a single point mutation in the gene encoding lamin A, which forms a protein scaffold on the inner edge of the nucleus that helps maintain chromatin structure and organize nuclear processes such as RNA and DNA synthesis.
On the other hand, a
rare «genetic condition» called progeria — accelerated
premature aging — can develop in infants and young children which is not actually genetic in nature yet appears through a «new» point mutation on a specific chromosome.