Promoter (genetics) - Diseases Associated With Aberrant Promoter Function

Diseases Associated With Aberrant Promoter Function

Though OMIM is a major resource for gathering information on the relationship between mutations and natural variation in gene sequence and susceptibility to hundreds of diseases, a sophisticated search strategy is required to extract diseases associated with defects in transcriptional control where the promoter is believed to have direct involvement.

This is a list of diseases where evidence suggests some promoter malfunction, through either direct mutation of a promoter sequence or mutation in a transcription factor or transcriptional co-activator.

Most diseases are heterogeneous in etiology, meaning that one "disease" is often many different diseases at the molecular level, though symptoms exhibited and response to treatment may be identical. How diseases of different molecular origin respond to treatments is partially addressed in the discipline of pharmacogenomics.

Not listed here are the many kinds of cancers involving aberrant transcriptional regulation owing to creation of chimeric genes through pathological chromosomal translocation. Importantly, intervention on the number or structure of promoter-bound proteins is one key to treating a disease without affecting expression of unrelated genes sharing elements with the target gene. Genes where change is not desirable are capable of influencing the potential of a cell to become cancerous and form a tumor.