Mutations in MED12 lead to mental retardation, including Opitz–Kaveggia syndrome, Ohdo syndrome, Lujan–Fryns syndrome, and psychosis. It's a target for gene therapy

Abstract

Mutations in MED12 lead to mental retardation, including Opitz–Kaveggia syndrome, Ohdo syndrome, Lujan–Fryns syndrome, and psychosis. Malignant cell transformation was linked to a transcriptional machine failure and, as such, MED12 function dysregulation was engaged across many cancers. Its involvement in hormone-dependent cancers (uterine leiomyoma, breast fibroepithelial tumors, prostate cancer, and breast cancer) represents a unique target for such malignancies. Knowledge of downstream targets of MED12 alterations also includes specific targets that might be exploited in MED 12-mutated cancers. For example, MED 12 loss entails resistance to lung cancer tyrosine kinase inhibitors, pushing emphasis to alternative therapies. The entire genome sequencing area is growing quite rapidly, so we anticipate identifying MED12 mutations more regularly in people with intellectual disability. It is also worth noting that gene location on chromosome X mainly affects males, causing such gender bias illnesses. The study was published in the journal of Clinical and molecular Epidemiology, Biomarkers' Journal.  The study concluded that MED12 is a crucial component of transcription regulatory machinery and any alterations in its structure or function are deleterious to cell growth, division, and differentiation processes. MED12 is, thus, a major transcription regulator affecting various behavioral disorders and malignancies. This research suffices to identify MED12 as a therapeutic target and biomarker for several diseases.