European Journal of Biomedical and Pharmaceutical Sciences

IMPRINTED GENES ON CHROMOSOME 15q11-q13 REGION ASPECTS OF PRADER WILLI SYNDROME (PWS) PHENOTYPES AND THEIR THERAPEUTICS MODELS

Vijayakumar Padmavathi*, Manickam Sangeetha, Venkatesan Dhivya and Vellingiri Balachandar

ABSTRACT

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder caused by inherited deletion of paternally expressed genes on human chromosome 15q11-q13 via different genetic mechanisms including paternal deletion of this region (65–75% of individuals), maternal uniparentaldisomy (20–30%), and an imprinting defect (1–3%), which is able to change the phenotype of PWS include low birth weight, severe hypotonia, feeding difficulties, hyperphagia and obesity. Many of the characteristic features of PWS results from the loss of function of the paternally imprinted genes including SNURF-SNRPN, NDN, MKRN3, MAGEL and a cluster of snoRNAs. Their silencing on the maternal chromosome is mainly attributed to DNA methylation and histone modifications at PWS imprinting center (IC) of this region. However, the mechanism of imprinted genes is currently unclear for the changes in the phenotypes of PWS. The purpose of this review article explains the aberrations of imprinted genes on chromosome 15q11-q13 region contributed to PWS phenotypes and different therapeutic models established to treatment of PWS.

Keywords: Prader-Willi Syndrome; 15q11-q13 region, Imprinted genes; Phenotypes; Therapeutics.