Genetics of Multiple Sclerosis

Oksenberg, Jorge R.

doi:10.1016/b978-0-12-801914-6.00004-0

Cited by 4 publications

(2 citation statements)

References 67 publications

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“…The human leukocyte antigen (HLA) association, first described in the early 1970s, suggests that MS is an autoimmune disease [ 155 ]. The strongest susceptibility signal maps to the HLA-DRB1 gene in the class II region of the major histocompatibility complex (MHC), which accounts for ≈10% of the disease risk.…”

Section: Mmps and Timps In Human Diseasesmentioning

confidence: 99%

The Roles of Matrix Metalloproteinases and Their Inhibitors in Human Diseases

Cabral-Pacheco

Garza‐Veloz

Rosa

et al. 2020

IJMS

944

590

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Matrix metalloproteinases (MMPs) are a family of zinc-dependent extracellular matrix (ECM) remodeling endopeptidases that have the capacity to degrade almost every component of the ECM. The degradation of the ECM is of great importance, since it is related to embryonic development and angiogenesis. It is also involved in cell repair and the remodeling of tissues. When the expression of MMPs is altered, it can generate the abnormal degradation of the ECM. This is the initial cause of the development of chronic degenerative diseases and vascular complications generated by diabetes. In addition, this process has an association with neurodegeneration and cancer progression. Within the ECM, the tissue inhibitors of MMPs (TIMPs) inhibit the proteolytic activity of MMPs. TIMPs are important regulators of ECM turnover, tissue remodeling, and cellular behavior. Therefore, TIMPs (similar to MMPs) modulate angiogenesis, cell proliferation, and apoptosis. An interruption in the balance between MMPs and TIMPs has been implicated in the pathophysiology and progression of several diseases. This review focuses on the participation of both MMPs (e.g., MMP-2 and MMP-9) and TIMPs (e.g., TIMP-1 and TIMP-3) in physiological processes and on how their abnormal regulation is associated with human diseases. The inclusion of current strategies and mechanisms of MMP inhibition in the development of new therapies targeting MMPs was also considered.

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Section: Mmps and Timps In Human Diseasesmentioning

confidence: 99%

The Roles of Matrix Metalloproteinases and Their Inhibitors in Human Diseases

Cabral-Pacheco

Garza‐Veloz

Rosa

et al. 2020

IJMS

944

590

View full text Add to dashboard Cite

show abstract

“…Considering the genetic factors, several reports relating to familial clustering demonstrated the increased frequency of the disease about 10 to 15 times for the siblings of MS patients compared to the general population (Oksenberg and McCauley, 2016). Moreover, based on meta-analyses that were conducted by the International Multiple Sclerosis Genetics Consortium (IMSGC), about 233 genetic loci involved in genes that manage immunological functions and affect the development of MS were discovered, such as human leukocyte antigen (HLA) and cytokines (Cotsapas and Mitrovic, 2018, International Multiple Sclerosis Genetics Consortium (IMSGC), 2019).…”

Section: Introductionmentioning

confidence: 99%

Impact of Genetic Polymorphisms in the Interleukin-18 and Interleukin-21 Genes on the Risk and Clinical Outcomes of Multiple Sclerosis

Bakr,

Hashim,

El-Eshmawy

et al. 2024

Preprint

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To study the association between IL-18-137G/C (rs187238) and IL-21-1472G/T (rs2055979) single nucleotide polymorphisms (SNPs) with the risk of MS, the disease progression, as well as the clinical features. 271 Egyptian individuals have participated in this present search, of whom 99 cases and 140 were unrelated healthy controls. For the IL-18-137G/C SNP, the GC genotype and C allele were linked to susceptibility to MS, and the GC and CC genotypes and C allele were linked to a higher risk of developing progressive MS. Regression investigation further strengthened the notion that this SNP is a predictor of the disability of the disease according to the Disability Status Scale (EDSS) values. For the IL-21-1472G/T SNP, the TT genotype and T allele were associated with the decreased risk of progressive MS in the Egyptian cohort when comparing the two diseased forms; however, they were not associated with the disability progression and severity of the disease. The IL-18-137G/C SNP could be a possible risk factor for the susceptibility and progression of MS. In contrast, the IL-21-1472G/T SNP could protect against progressive MS.

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The twisted role of natalizumab and rehabilitation in an aggressive form of multiple sclerosis: a case report

Cordoș

Barac

2020

BALNEO

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Multiple sclerosis is one of the main causes of neurological disability among young people, severely influencing life’s quality. Motor deficit is one of the most invalidating symptoms in multiple sclerosis. Motor involvement at onset, spinal demyelinating lesion distribution, highly active lesions, high frequency of relapses in the first 2 years after disease onset and post relapse residual disability with poor recovery, later age at onset and male gender represent unfavorable prognostic factors. Considering the significant role of prognostic factors in predicting the evolution of the disease, an induction treatment approach should always be considered. In this report we present the case of a middle-aged male patient presenting severe weakness and sensitive symptoms with a challenging therapeutic decision that had a favorable recovery after reconsidering the initial therapy. The recognition of aggressive forms of multiple sclerosis is mandatory in preventing further disability, improving the patient’s quality of life. Natalizumab is a monoclonal antibody used for the aggressive forms of multiple sclerosis, reducing the lymphocytes traffic through the blood brain barrier, with a great impact on relapses frequency and disease evolution. Keywords: aggressive multiple sclerosis, brain derived neurotrophic factor, natalizumab, rehabilitation,

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Genetics of Multiple Sclerosis

Cited by 4 publications

References 67 publications

The Roles of Matrix Metalloproteinases and Their Inhibitors in Human Diseases

The Roles of Matrix Metalloproteinases and Their Inhibitors in Human Diseases

Impact of Genetic Polymorphisms in the Interleukin-18 and Interleukin-21 Genes on the Risk and Clinical Outcomes of Multiple Sclerosis

The twisted role of natalizumab and rehabilitation in an aggressive form of multiple sclerosis: a case report

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