Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome.

ABSTRACT: Epigenetics has achieved a profound impact in the biomedical field, providing new experimental opportunities and innovative therapeutic strategies to face a plethora of diseases. In the rare diseases scenario, Beckwith-Wiedemann syndrome (BWS) is a pediatric pathological condition characterized by a complex molecular basis, showing alterations in the expression of different growth-regulating genes. The molecular origin of BWS is associated with impairments in the genomic imprinting of two domains at the 11p15.5 chromosomal region. The first domain contains three different regions: insulin growth like factor gene (IGF2), H19, and abnormally methylated DMR1 region. The second domain consists of cell proliferation and regulating-genes such as CDKN1C gene encoding f

SUBMITTER: Papulino C 

PROVIDER: S-EPMC7522569 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature