MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.

Michela MarianiD FintiniG CirilloS PalumboE M Del GiudiceS BocchiniM MancoM CappaA Grandone

Published in: Journal of endocrinological investigation (2022)

The typical genetic defect of PWS should lead to unmeasurable levels of the MKRN3 protein due to the inactivation of the paternal allele. Measurable circulating MKRN3 could suggest the possible involvement of tissue-specific imprinting mechanisms and other regulatory factors in gene expression. Correlations with HOMA-IR index, HbA1c, and FSH suggest peripheral actions of MKRN3, but future studies are warranted to investigate this topic.

Keyphrases

gene expression
growth hormone
dna methylation
genome wide
current status
case report
protein protein
binding protein