Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Genetic Basis of Inflammatory Demyelinating Diseases of the Central Nervous System: Multiple Sclerosis and Neuromyelitis Optica Spectrum

Genaro Gabriel Ortiz
ORCID logo ,
Blanca M.G. Torres-Mendoza
ORCID logo ,
Javier Ramírez-Jirano
ORCID logo ,
Jazmin Marquez-Pedroza
,
José J. Hernández-Cruz
,
Mario A. Mireles-Ramirez
* ,
Erandis D. Torres-Sánchez
* ORCID logo
Version 1 : Received: 11 May 2023 / Approved: 12 May 2023 / Online: 12 May 2023 (11:23:13 CEST)

A peer-reviewed article of this Preprint also exists.

Ortiz, G.G.; Torres-Mendoza, B.M.G.; Ramírez-Jirano, J.; Marquez-Pedroza, J.; Hernández-Cruz, J.J.; Mireles-Ramirez, M.A.; Torres-Sánchez, E.D. Genetic Basis of Inflammatory Demyelinating Diseases of the Central Nervous System: Multiple Sclerosis and Neuromyelitis Optica Spectrum. Genes 2023, 14, 1319. Ortiz, G.G.; Torres-Mendoza, B.M.G.; Ramírez-Jirano, J.; Marquez-Pedroza, J.; Hernández-Cruz, J.J.; Mireles-Ramirez, M.A.; Torres-Sánchez, E.D. Genetic Basis of Inflammatory Demyelinating Diseases of the Central Nervous System: Multiple Sclerosis and Neuromyelitis Optica Spectrum. Genes 2023, 14, 1319.

Abstract

Demyelinating diseases alter myelin or the coating surrounding most nerve fibers in the central and peripheral nervous systems. The grouping of human central nervous system demyelinating disorders today includes Multiple Sclerosis (MS) and Neuromyelitis Optica Spectrum Disorders (NMOSD) as distinct disease categories. Each disease is caused by a complex combination of genetic and environmental variables, many involving an autoimmune response. Even though these conditions are fundamentally similar, research into genetic factors, their unique clinical manifestations, and lesion pathology has helped with differential diagnosis and disease pathogenesis knowledge. This review aims to synthesize the genetic approaches that explain the differential susceptibility between these diseases, explore the overlapping clinical features, and pathological findings, discuss existing and emerging hypotheses on the etiology of demyelination, and assess recent pathogenicity studies and their implications for human demyelination. This review presents critical information from previous studies on the disease, which asks several questions to understand the gaps in research in this field.

Keywords

multiple sclerosis; neuromyelitis optica spectrum disorders; genetic basis; inflammatory demyelinating disease; genes

Subject

Medicine and Pharmacology, Neuroscience and Neurology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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