Genetic disorders associated with mutations in bHLH transcription factors: a review

Abstract

bHLH proteins belong to a superfamily of proteins characterized by one of the largest dimerized transcriptional proteins. The main role of bHLH protein is in the developmental processes. They function as transcriptional factors, proteins that regulate the transcription of DNA into RNA. bHLH proteins are one of the most important proteins that help in many developmental processes during transcription process. Specifically, bHLH proteins play a role of determination of neural cells fates and ensure the exact number of specific neural cell production. The functions of bHLH proteins are strictly regulated. Mutations and deformations during transcription process on bHLH proteins can create genetic disorders. Disorders happen due to specific bHLH gene mutation and affects tissues. In this review, about 57 different genetic diseases are being discussed that are caused by mutations on different bHLH genes. Some of them are life threatening mutations and others make people handicapped for the rest of their life. Diseases like Cancer, Autoimmune disorders, Neurological disorders, Cardiovascular disorders, Obesity and many more can be caused by mis-regulations or mutations in regulatory sequences. The review sheds light on how bHLH protein mutations can cause widespread issues in different physiological systems.