Schizophrenia may be considered as a member of the spectrum of PBAFopathies

Introduction Chromatin modifications and epigenetics are important pathogenesis mechanisms leading to various neurologic psychiatric disorders including epilepsy, drug addictions, depression, autistic spectrum, learning disabilities schizophrenia. Recently, the disruption of chromatin remodeling BAF complex has been linked several neurodevelopmental syndromes, commonly referred as PBAFopathies. Objectives Here, we review implication PBAF genes in schizophrenia outline syndromes caused by mutations these chromatin-modifying enzymes labelled PBAFopathies discuss functional consequences reported literature. Methods We comprehensively scientific literature using Pubmed database other search platforms such Google scholar state role reveal most frequent Results Our revealed that human analogs subfamily ATP-dependent complexes, which known eukaryotes mammalian SWI/SNF (counting a group proteins associate possess DNA-stimulated ATPase activity can destabilize histone-DNA interactions reconstituted nucleosomes providing crucial nucleosome rearrangement allowing activation/repression genes) for regulation expression cells differentiation. They involve two well-known complexes SWI/SNF-A (known complex) SWI/SNF-B Polybromo-associated or complex). is multisubunit chromatin-remodeling performs fundamental roles gene regulation, cell lineage specification, organismal development inactivate subunits found nearly 20% cancers developmental disorders, forming continuum spectrum diseases. Since first description BRG1/BRM schizophrenia, have reported: SMARCA1, SMARCA2, SMARCA4/BRG1, etc. Single nucleotide polymorphisms (SNPs) also associated with Conclusions This focuses on find out if may be considered member Disclosure Interest None Declared