Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case&amp;ndash;control study

Coşkun, Salih; Varol, Sefer; Özdemir, Haşan; Çelik, Sercan Bulut; Balduz, Metin; Camkurt, Mehmet Akif; Çim, Abdullah; Arslan, Demet; Çevik, Mehmet Uğur

doi:10.2147/ndt.s109414

Cited by 6 publications

(6 citation statements)

References 35 publications

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“…Headache is the most common neurological manifestation in the IL-1β-mediated autoinflammatory disorders. This is consistent with the emerging role for inflammasomes in migraine ( 92 ) and the association of MEFV variants with the risk of migraine ( 93 ). Moreover, seizures is another commonly reported neurological manifestation of these diseases.…”

Section: Autoinflammatory Disorderssupporting

confidence: 86%

Neuroinflammation Associated With Inborn Errors of Immunity

Lindahl

Bryceson

2022

Front. Immunol.

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The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity. Although distinct neuroinflammatory diseases are scarce among the several thousands of established congenital diseases, elements of neuroinflammation are increasingly recognized in a substantial proportion of inborn errors of immunity, where it may even dominate the clinical picture at initial presentation. Although each disease entity is rare, they collectively can constitute a significant proportion of neuropediatric patients in tertiary care and may occasionally also explain adult neurology patients. We focus this review on the signs and symptoms of neuroinflammation that have been reported in association with established pathogenic variants in immune genes and suggest the following subdivision based on proposed underlying mechanisms: autoinflammatory disorders, tolerance defects, and immunodeficiency disorders. The large group of autoinflammatory disorders is further subdivided into IL-1β-mediated disorders, NF-κB dysregulation, type I interferonopathies, and hemophagocytic syndromes. We delineate emerging pathogenic themes underlying neuroinflammation in monogenic diseases and describe the breadth of the clinical spectrum to support decisions to screen for a genetic diagnosis and encourage further research on a neglected phenomenon.

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Section: Autoinflammatory Disorderssupporting

confidence: 86%

Neuroinflammation Associated With Inborn Errors of Immunity

Lindahl

Bryceson

2022

Front. Immunol.

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“…In a study by Coşkun et al [13], 220 patients with FMF were compared with a group of 228 healthy people as a control group. Five mutations of M694V, M694I, M680I, V726A, R761H, and E148Q were determined.…”

Section: Discussionmentioning

confidence: 99%

MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

Salehzadeh

Sharghi

Motayayagheni

et al. 2019

Genetics Research International

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Background and Objective. MEFV gene codes the pyrine protein that has major role in FMF as an autoinflammatory disorder. FMF is more often seen in the people of the Mediterranean area. Considering the significant role of MEFV gene in many rheumatologic diseases and even nonrheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area. Methods. 224 healthy (unaffected or control) people based on the Cochran formula entered this study. The blood samples were screened for the 12 common MEFV gene variants polymorphisms according to manufacturer’s instructions (FMF Strip Assay, Vienna lab, Vienna, Austria). They filled a questionnaire containing required information. All healthy control cases initially were evaluated for FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. All data were analyzed by simple statistical method. Results. Among 224 healthy control cases, 113 (50.4%) were male and 111 (49.6%) female. There were MEFV variants alleles in 57 patients (25%): 28 were male (49.1%) and 29 female (50.9%). The most frequent variants were E148Q (18.3%), followed by P369S (3.1%), V726A (2.2%), A744S (1.3%), and F479L, M694V, and R761H (0.8%), and eventually K695R (0.4%), respectively. Some variants such as M694I, M680I (G/C), M680I (G/A), and I692del were not seen in these samples. There were compound heterozygote variations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S/F479L in normal population without any findings in favor of FMF. Conclusion. Twenty-five percent of the normal populations of the northwest of Iran are carrying MEFV gene variants, and the most common mutation is E148Q (18.3%). The presence of M694I, M680I (G/C), M680I (G/A), I692del mutations in the normal population can be interpreted cautiously, while particular compound heterozygote mutations can be considered as normal variants.

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“…Results indicated that biallelic mutations in MEFV gene were correlated with an increased risk of migraine in the Turkish population. Furthermore, MEFV mutations appeared to be related to a higher frequency and shorter durations of migraine attacks [ 61 ].…”

Section: Genetic Findings Related To the Immune System In Migraineursmentioning

confidence: 99%

Immunological findings in patients with migraine and other primary headaches: a narrative review

Biscetti

Vanna

Cresta

et al. 2021

Clinical and Experimental Immunology

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Experimental findings suggest an involvement of neuroinflammatory mechanisms in the pathophysiology of migraine. Specifically, preclinical models of migraine have emphasized the role of neuroinflammation following the activation of the trigeminal pathway at several peripheral and central sites including dural vessels, the trigeminal ganglion and the trigeminal nucleus caudalis. The evidence of an induction of inflammatory events in migraine pathophysiological mechanisms has prompted researchers to investigate the Human leukocyte antigen (HLA) phenotypes as well as cytokine genetic polymorphisms in order to verify their potential relationship with migraine risk and severity. Furthermore, the role of neuroinflammation in migraine seems to be supported by evidence of an increase in pro-inflammatory cytokines, both ictally and interictally, together with the prevalence of Th1 lymphocytes and a reduction in regulatory lymphocyte subsets in peripheral blood of migraineurs. Cytokine profiles of cluster headache patients and those of tension-type headache patients further suggest an immunological dysregulation in the pathophysiology of these primary headaches, although evidence is weaker than for migraine. The present review summarizes available findings to date from genetic and biomarker studies that have explored the role of inflammation in primary headaches.

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Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study

Cited by 6 publications

References 35 publications

Neuroinflammation Associated With Inborn Errors of Immunity

Neuroinflammation Associated With Inborn Errors of Immunity

MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

Immunological findings in patients with migraine and other primary headaches: a narrative review

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