Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis.

Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis.

Publication date: Nov 04, 2019

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 relapsing-remitting 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.

Feliciano, L.M., S’avio, A.L.V., de Castro Marcondes, J.P., da Silva, G.N., and Salvadori, D.M.F. Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis. 19452. 2019 J Mol Neurosci.

Concepts Keywords
Biomarkers Karyorrhexis
Blood Pyknosis
Buccal Mucosa Karyolysis
Cytogenetic Oral mucosa
Etiology Spms
Expression Profiling Programmed cell death
Frequency Multiple sclerosis
Genetic Cellular senescence
Genetic Instability Cellular processes
HIF1A Branches of biology
IL13 Cell biology
IL18 MS
Multiple Sclerosis Multiple Sclerosis
MYC
Pathogenesis
Progressive
TNF
Vitamin

Semantics

Type Source Name
gene UNIPROT TNF
gene UNIPROT MYC
drug DRUGBANK Myricetin
gene UNIPROT IL18
gene UNIPROT IL13
gene UNIPROT HIF1A
gene UNIPROT APP
pathway BSID Gene Expression
disease MESH abnormalities
disease DOID SPMS
disease DOID relapsing-remitting MS
drug DRUGBANK Vitamin D
disease DOID Multiple Sclerosis
disease MESH Multiple Sclerosis

Original Article

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