Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
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Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis Luciana Maria Feliciano 1 & André Luiz Ventura Sávio 2 & João Paulo de Castro Marcondes 3 & Glenda Nicioli da Silva 4 & Daisy Maria Fávero Salvadori 1 Received: 26 June 2019 / Accepted: 26 September 2019 # Springer Science+Business Media, LLC, part of Springer Nature 2019
Abstract The etiology of multiple sclerosis (MS) is still not known, but the interaction of genetic, immunological, and environmental factors seem to be involved. This study aimed to investigate genetic alterations and the vitamin D status in patients with relapsingremitting MS (RRMS) and secondary progressive MS (SPMS). A total of 53 patients (29 RRMS; 24 SPMS) and 25 healthy subjects were recruited to evaluate the micronucleated cell (MNC) frequency and nuclear abnormalities in the buccal mucosa, gene expression profiling in mononuclear cells, and plasmatic vitamin D concentration in the blood. Results showed a higher frequency of cells with karyorrhexis (SPMS) and lower frequencies of nuclear pyknosis (RRMS and SPMS) and karyolysis (SPMS) in patients with MS. Significant increase in the frequency of MNC was detected in the buccal mucosa of RRMS and SPMS patients. HIF1A, IL13, IL18, MYC, and TNF were differentially expressed in MS patients, and APP was overexpressed in cells of RRMS compared to SPMS patients. No relationship was observed between vitamin D level and the differentially expressed genes. In conclusion, the cytogenetic alterations in the buccal mucosa can be important indicators of genetic instability and degenerative processes in patients with MS. Furthermore, our data introduced novel biomarkers associated with the molecular pathogenesis of MS. Keywords Multiple sclerosis . Vitamin D . Biomarkers . Buccal mucosa . Micronucleated cell
Introduction Multiple sclerosis (MS) is the most common and unpredictable demyelinating disease of the central nervous system that affects young adults. Histologically characterized by infiltration of immune cells (lymphocytes and macrophages) into the brain and spinal cord, causing inflammation in the myelin sheath of axons and, consequently, axonal demyelination (Stampanoni et al. 2017). Since MS shows a great range of variability, in 2012, the International Advisory Committee on Clinical Trials of MS re-examined the previously defined * Daisy Maria Fávero Salvadori [email protected] 1
Faculty of Medicine, UNESP–São Paulo State University, Botucatu, SP, Brazil
2
Health Science Dept., UNINOVE–Nove de Julho University, Bauru, SP, Brazil
3
CESMAC–University Center, Maceió, AL, Brazil
4
Faculty of Pharmacy, UFOP–Federal University of Ouro Preto, Ouro Preto, MG, Brazil
phenotypes (Lublin and Reingold 1996), and recharacterized the disease as the following: clinically isolated syndrome (CIS), relapsing-remitting MS (RRMS), primary progressive MS (PPMS), progressive relapsing MS (PRMS), and secondary progressive MS (SPMS). CIS is the first episode of neurological symptoms caused by inflammation, compatible wi
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