Cambios heterocrónicos en la evolución cerebral humana y su implicación en la enfermedad de alzheimer y otras enfermedades neurodegenerativas

Identifier:  TDX:2436

Handle: https://hdl.handle.net/20.500.11797/TDX2436

Authors:  Bufill Soler, Enric

Abstract:
Alzheimer's disease is very common in the humans and extremely rare in other mammals. Therefore, some of the changes that have occurred during human brain evolution may be related with this disease. During the human brain evolution heterocronic changes have occurred, consisting in the retention of juvenile characters in adulthood, as a high synaptic plasticity in some brain areas (neuronal neoteniy). The characteristic lesions of Alzheimer's disease coincide with the areas in which there has been a neuronal neoteny. These areas are characterized by a high synaptic turn-over . The proteins that form part of the reelin signaling pathway are involved in the synaptic plasticity.We found three genes that participate in the reelin signaling pathway that present single nucleotide polymorphisms that may increase or decrease significantly the risk of presenting Alzheimer or mild cognitive impairment. These genotypes are RELN (*rs 528528 and *rs 2299356), PLK2 (*rs 15009 and *rs 702723) and CAMK2To (*rs 3756577 and *rs 3822606). Three of the genotypes are found in the promoter region of the gene, which suggests that in Alzheimer's disease could intervene epigenetic changes that alter the expression of certain genes related with the synaptic plasticity.