Genética hereditária: pesquisas atuais

Abstrato

Potential Biomarkers for Intellectual Disability: A Gipsy Family Study

Aureli A, Del Beato T, Sebastiani P, Di Rocco M, Marimpietri AE, Graziani A, Sechi E and Di Loreto S

Intellectual disability (ID) is frequently due to the synergic action of environmental and genetic factors. Here we describe the particular case of three Gipsy Italian siblings, fifteen, twelve and eleven years old, with ID. Genetic analysis stated that the parents are not consanguineous, and no human leukocyte antigen (HLA) alleles related to autism and/or other neurological disorders are present in the 3 ID patients. Instead, a positive association of ID with brain derived neurotrophic factor (BDNF) (Val66Met and C270T), IL6 (-174) and interleukin 1receptor antagonist (IL1RA) mspa 11100 polymorphisms was demonstrated in these three ID patients. Moreover, serum levels of interleukin 1beta (IL1β), interleukin 6 (IL6) were significantly different between the three patients and controls.