[Autosomal dominant mental retardation]

Mental retardation (MR) is a clinical condition that may be due to a large variety of causes, the most important of which are those of a genetic origin, owing to the repercussions they can have on the family. There are more than one thousand types of MR with a genetic origin, and they are not usually found in isolation. Different research studies have found a relation between genetically-originated MR and the presence of mutations in genes involved in the intracellular pathway that mediates in synaptic plasticity, learning and memory.

There are genes that alter the flow of information between the membrane and the nucleus, as is the case of genes NF1 and TSC2, and others are needed to integrate the external signal within the inside of the cell, as is the case of gene DMPK. These three genes are implicated in neurofibromatosis type 1, tuberous sclerosis and Steinert's myotonic dystrophy, respectively, which are monogenic diseases that are transmitted by autosomal dominant inheritance and appear as different forms of MR, among other clinical features.

Further studies of these diseases and the genes responsible for them will help to improve our knowledge about MR with a genetic origin.