Genes, Vol. 11, Pages 1152: A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment

Genes, Vol. 11, Pages 1152: A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment Genes doi: 10.3390/genes11101152 Authors: Mario Stampanoni Bassi Fabio Buttari Ilaria Simonelli Luana Gilio Roberto Furlan Annamaria Finardi Girolama Alessandra Marfia Andrea Visconti Andrea Paolillo Marianna Storto Stefano Gambardella Rosangela Ferese Marco Salvetti Antonio Uccelli Giuseppe Matarese Diego Centonze Francesca De Vito In multiple sclerosis (MS), activated T and B lymphocytes and microglial cells release various proinflammatory cytokines, promoting neuroinflammation and negatively affecting the course of the disease. The immune response homeostasis is crucially regulated by the activity of the enzyme adenosine deaminase (ADA), as evidenced in patients with genetic ADA deficiency and in those treated with cladribine tablets. We investigated in a group of patients with MS the associations of a single nucleotide polymorphism (SNP) of ADA gene with disease characteristics and cerebrospinal fluid (CSF) inflammation. The SNP rs244072 of the ADA gene was determined in 561 patients with MS. Disease characteristics were assessed at the time of diagnosis; furthermore, in 258 patients, proinflammatory and anti-inflammatory molecules were measured in the CSF. We found a significant association between rs244072 and both clinical characteristics and central infla...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research