Description: Haploinsufficient refers to a condition in which a single functional copy of a gene is insufficient to maintain normal function. This situation can result in decreased gene expression and, consequently, in an abnormal phenotype or the manifestation of diseases. In genetic terms, diploid organisms, such as humans, possess two copies of each gene, one inherited from each parent. However, in cases of haploinsufficiency, the loss of one of these copies, whether due to mutation, deletion, or any other mechanism, can lead to functional deficits. This condition is particularly relevant in the study of genetic diseases, where it has been observed that certain disorders are caused by the haploinsufficiency of specific genes. Haploinsufficiency can affect both genes that are critical for development and those that regulate essential cellular processes. Consequently, identifying haploinsufficient genes is crucial for understanding the molecular basis of various pathologies and for developing targeted therapies. Additionally, haploinsufficiency can influence evolution, as the loss of a gene copy may allow adaptation to new environmental conditions, although it can also pose risks to the organism’s survival.
