Familial Clonal Hematopoiesis in a Long Telomere Syndrome.

ABSTRACT:

Background

Telomere shortening is a well-characterized cellular aging mechanism, and short telomere syndromes cause age-related disease. However, whether long telomere length is advantageous is poorly understood.

Methods

We examined the clinical and molecular features of aging and cancer in persons carrying heterozygous loss-of-function mutations in the telomere-related gene POT1 and noncarrier relatives.

Results

A total of 17 POT1 mutation carriers and 21 noncarrier relatives were initially included in the study, and a validation cohort of 6 additional mutation carriers was subsequently recruited. A majority of the POT1 mutation carriers with telomere length evaluated (9 of 13) had long telomeres (>99th percentile). POT1 mutation carriers

SUBMITTER: DeBoy EA 

PROVIDER: S-EPMC10501156 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature