Investigation of leukocyte telomere length and hTERT gene MNS16A VNTR variant in microtia patients

Abstract

Aim: Telomeres are the basis of replicative senescence in somatic cells and control cell division. It has been shown in some studies that telomere shortening is associated with growth retardation and congenital malformations. Microtia is acongenital ear deformity in which the external ear is malformed and underdeveloped. This study aimed to determine whether leukocyte telomere length (LTL) and the MNS16A Variable Number Tandem Repeat (VNTR) variant of the hTERT gene are associated with the risk of microtia in the Turkish population.

Methods: A total of 38 volunteers, 18 patients diagnosed with microtia and 20 healthy controls, were included in the study. LTL analysis was performed with the Quantitative PCR method, and relative T/S ratios of patients and controls were calculated. hTERT-MNS16A-VNTR analysis was performed by PCR method and analysed agarose gel electrophoresis.

Results: When patients and healthy controls were compared in terms of genotype/allele frequencies; no statistically significant difference was detected in the genotype and allele frequency of the hTERT-MNS16A-VNTR variant. However, when the T/S ratios of the patients were compared with the healthy group, borderline significance was detected in terms of the shortening rate (p=0.055).

Conclusions: Our study is the first study in the literature to examine the relationship between microtia and LTL and hTERT-MNS16A-VNTR. The results suggest that the hTERT-MNS16A-VNTR variant may not be associated with microtia, but telomere shortening may have a causal relationship with microtia. Since microtia is a rare congenital anomaly with varying prevalence among populations, studies in different ethnicities and with larger sample groups will further elucidate the relationship between microtia and LTL/hTERT-MNS16A-VNTR.