Mitochondrial genome and risk of multiple sclerosis

Mitochondrial DNA (mtDNA) polymorphism makes a certain contribution to the formation of a genetic risk of multiple sclerosis (MS).Objective: to analyze the frequency of mtDNA variants in patients with MS and control individuals in the Russian population. A similar study was conducted for the first time.Patients and methods. The polymorphism of mtDNA was studied in the Russian population: in 283 unrelated patients with relapsing-remitting MS and in 290 unrelated healthy controls matched for gender and age.Results and discussion. The frequency of haplogroup J in the patients with MS was twice higher than that in the control group (p=0.0055) (odds ratio (OR) 2.00; 95% confidence interval (CI). 1.21–3.41). This association was mostly observed in women (p=0.0083) (OR 2.20; 95% CI, 1.19–4.03). There was also a significant association of the A allele of MT-ND5 (m. 13708G>A) with MS (p=0.03) (OR 1.89; 95% CI 1.11–3.32). Sex stratification showed that the association with MS was significant only in women (p=0.009; OR, 2.52; 95% CI, 1.29–5.14). Further investigations will aim to analyze mtDNA variability (at the level of individual polymorphisms, haplogroups, and whole genome) in patients with relapsing-remitting MS and in those with primary progressive MS versus healthy individuals and patients with relapsing-remitting MS according to disease severity.Conclusion. The data obtained in the Russian population suggest that mtDNA variations are involved in MS risk, to a greater extent in women.

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Metabolic differences between multiple sclerosis subtypes measured by quantitative MR spectroscopy

Multiple Sclerosis Journal ◽

10.1191/1352458502ms802oa ◽

2002 ◽

Vol 8 (3) ◽

pp. 200-206 ◽

Cited By ~ 18

Author(s):

J W Pan ◽

P K Coyle ◽

K Bashir ◽

J N Whitaker ◽

L B Krupp ◽

...

Keyword(s):

Multiple Sclerosis ◽

Neuronal Loss ◽

Control Group ◽

Periventricular White Matter ◽

Quantitative Mr ◽

Significant Difference ◽

Relapsing Remitting ◽

White Matter Region ◽

Metabolite Ratio ◽

And Control

We used quantitative magnetic resonance (MR) spectroscopic imaging with T1-based image segmentation to evaluate the subtypes of multiple sclerosis (MS) (eight patients each group of relapsing-remitting [RR], secondary progressive [SP] and primary progressive [PP]). There was no significant difference in age between the PP group with the RR, SP or control group. We found that the metabolite ratio of choline/NA from the periventricular white matter region was not significantly different between the RR and SP groups. Using an ANOVA, the ratios of periventricular choline/NA or creatine/NA of these combined groups were significantly higher than the PP and control groups. Quantification of these data suggest that the major cause of the elevation of these parameters is due to an increase in choline and creatine in the RR group while NA is decreased in the SP group. Thus, early PP disease appears to be relatively intact with respect to neuronal loss.

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Possible association between multiple sclerosis and the human T cell leukemia virus (HTLV)-related endogenous element, HRES-I

Multiple Sclerosis Journal ◽

10.1177/135245859600200303 ◽

1996 ◽

Vol 2 (3) ◽

pp. 133-136 ◽

Cited By ~ 6

Author(s):

HB Rasmussen ◽

A Heltberg ◽

K Christensen ◽

J Clausen

Keyword(s):

Multiple Sclerosis ◽

Leukemia Virus ◽

Endogenous Retrovirus ◽

Control Group ◽

Healthy Individuals ◽

Cell Leukemia ◽

Human T Cell ◽

Significant Difference ◽

Relapsing Remitting ◽

T Cell Leukemia Virus

In the present study we searched for an association between the human endogenous retroviral element HRES-I and multiple sclerosis (MS). Fragments of this endogenous retrovirus were amplified for subsequent examination by single strand conformational analysis. We did not find HRES-I markers exclusively linked with MS and only the two already known polymorphisms, which define three alleles of HRES-I, were detected. However, we found a significant difference in the distribution of these alleles between a group of 87 MS patients and a control group of 158 healthy individuals (P=0.014). There were no differences in the distribution of the HRES-I allelic forms between MS patients with a relapsing-remitting course and patients with chronic progressive MS. Our results provide evidence of an association between HRES-I and MS. Possible explanations for this are discussed.

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CXCL13 CSF level inversely correlates with duration of disease in primary progressive multiple sclerosis

Journal of Medical Science ◽

10.20883/jms.2016.169 ◽

2016 ◽

Vol 85 (4) ◽

pp. 302-304

Author(s):

Jacek Losy ◽

Piotr Iwanowski ◽

Elżbieta Kaufman ◽

Marlena Wójcicka

Keyword(s):

Multiple Sclerosis ◽

Serum Levels ◽

Progressive Multiple Sclerosis ◽

Control Group ◽

Primary Progressive Multiple Sclerosis ◽

Primary Progressive ◽

Cxcl13 Level ◽

Relapsing Remitting ◽

Duration Of Disease ◽

And Control

Chemokines are important factors in the immunopathogenesis of multiple sclerosis. The objective of the study was to examine the CSF and serum levels of CXCL13 and CCL5 chemokines in primary progressive MS, compare results with relapsing remitting MS and control group with other noninflammatory neurological disorders. The levels of chemokines was measured by ELISA method. The CXCL13 CSF levels in PP and RR MS were higher in comparison with control group, without significant differences between these podgroups. Additionally CXCL13 level in PP MS inversely correlated with duration of the disease. CCL5 CSF level was also significantly higher in PP MS in comparison with control group. The results demonstrate involvement of CXCL13 and CCL5 chemokines in the immunopathogenetic mechanisms of primary progressive MS.

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EVALUATION OF ASSOCIATION BETWEEN 9 GENETIC POLYMORPHISM AND MYOCARDIAL INFARCTION IN THE SIBERIAN POPULATION

Annals of the Russian academy of medical sciences ◽

10.15690/vramn.v67i5.270 ◽

2012 ◽

Vol 67 (5) ◽

pp. 24-29

Author(s):

V. N. Maximov ◽

I. V. Kulikov ◽

P. S. Orlov ◽

V. V. Gafarov ◽

S. K. Malyutina ◽

...

Keyword(s):

Myocardial Infarction ◽

Genetic Polymorphism ◽

Genomic Dna ◽

Venous Blood ◽

Russian Population ◽

Atherogenic Index ◽

Control Group ◽

Siberian Population ◽

And Control ◽

First Time

Aim: to evaluate association between genetic polymorphism (SNPs) and myocardial infarction (identified in recent GWAS) as markers of high risk of myocardial infarction (MI) in Siberian population. Patients were divided into 2 groups — MI patients and control group (ratio 1:2) and presented the sapmle of population of Novosibirsk (9400 patients, 45–69 years) within international project HAPIEE (Health, Alcohol and Psychosocial factors In Eastern Europe). 200 patients with MI (129 men, 71 women) were included. Control group — individuals without MI (420) matched for age and sex. Genomic DNA was extracted from venous blood by phenol-chloroform extraction. Gene polymorphism of genes tested by real-time PCR according to protocol (probes TaqMan, Applied Biosystems, USA) with the use of ABI 7900HT. The following SNPs were studied: rs28711149, rs499818, rs619203, rs10757278 and rs1333049 (hr. 9), rs1376251, rs2549513, rs4804611, rs17465637. The association of SNP and MI was confirmed for 4 of 9 studied SNPs: rs1333049 (hr. 9), rs10757278 (hr. 9), rs499818 (hr. 6), rs619203 gene ROS1. Heart rate was associated with rs1333049 and rs10757278. Glucose level was associated with rs619203, rs28711149 and rs1376251. Total cholesterol and atherogenic index was associated with rs28711149. For the first time in Russian population the associations of GWAS with myocardial infarction SNPs was detected for rs619203, rs499818, rs1333049 and rs10757278. These genetic markers can be used for assessing the risk of myocardial infarction in Russian population.

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CXCL13 CSF level inversely correlates with duration of disease in primary progressive multiple sclerosis

Journal of Medical Science ◽

10.20883/169 ◽

2016 ◽

Vol 85 (4) ◽

pp. 302

Author(s):

Jacek Losy ◽

Piotr Iwanowski ◽

Elżbieta Kaufman ◽

Marlena Wójcicka

Keyword(s):

Multiple Sclerosis ◽

Serum Levels ◽

Progressive Multiple Sclerosis ◽

Control Group ◽

Primary Progressive Multiple Sclerosis ◽

Primary Progressive ◽

Cxcl13 Level ◽

Relapsing Remitting ◽

Duration Of Disease ◽

And Control

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Prevalence of temporomandibular disorders symptoms in patients with multiple sclerosis

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20140059 ◽

2014 ◽

Vol 72 (6) ◽

pp. 422-425 ◽

Cited By ~ 3

Author(s):

Lucas S. C. Carvalho ◽

André P. C. Matta ◽

Osvaldo J. M. Nascimento ◽

Antônio S. Guimarães ◽

Luciane R. Rodrigues

Keyword(s):

Multiple Sclerosis ◽

Temporomandibular Disorders ◽

Control Group ◽

European Academy ◽

Gender And Age ◽

Significant Difference ◽

Disability Status ◽

Relapsing Remitting ◽

Age Range ◽

The Relationship

The aim of the present study was to assess the prevalence of symptoms of temporomandibular disorders (TMD) in patients with the relapsing-remitting form of multiple sclerosis (MS), the relationship between TMD and the severity of MS, and the presence of TMD symptoms in the evaluated groups. Sixty individuals were evaluated: 30 patients diagnosed with relapsing-remitting MS and 30 control individuals matched for gender and age range with no neurologic pathology. In order to investigate the TMD symptoms, the questionnaires of the EACD (European Academy of Craniomandibular Disorders) and the RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorders), both validated for TMD research, were administered. To assess the extent of disability produced by MS, the Expanded Disability Status Scale (EDSS) was used. The prevalence of TMD symptoms in patients with MS was 56.7% versus 16.7% for the control group, with a statistically significant difference between the groups (p=0.0016). No correlation was found between the severity of MS and the prevalence of TMD symptoms (Fisher's test, p=1.0).

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25-hydroxyvitamin D3 Concentration in Serum and Cerebrospinal Fluid of Patients with Remitting-relapse Multiple Sclerosis

Prague Medical Report ◽

10.14712/23362936.2014.18 ◽

2013 ◽

Vol 114 (3) ◽

pp. 162-171 ◽

Cited By ~ 6

Author(s):

Ali Moghtaderi ◽

G. H. Tamadon ◽

F. Haghighi

Keyword(s):

Multiple Sclerosis ◽

Cerebrospinal Fluid ◽

Statistical Difference ◽

Inflammatory Diseases ◽

Diagnostic Procedures ◽

Serum Levels ◽

Study Groups ◽

Control Group ◽

And Control ◽

First Time

There is epidemiological, geographical and immunological evidence suggesting that low environmental supplies of vitamin D3 may act as a  risk factor for developing multiple sclerosis (MS), possibly due to dysfunction in  the immunomodulatory properties of 25-hydroxyvitamin D3 (25-OH-D3) in  the brain. The objective of this study is to measure the serum and cerebrospinal fluid (CSF) concentrations of 25-OH-D3 in  MS patients during their relapsing phase. 52 patients with remitting-relapse and 58 patients with other non-inflammatory diseases of central and peripheral nervous system were entered into the study. Patients in  both groups were admitted for the first time to do diagnostic procedures and they were not on any other treatment for neurological disorders. The means and medians for serum levels of 25-OH-D3 in  MS patients and control group were 10.64 ± 9.2 ng/ml (median: 9.6 ng/ml) and 13.23 ± 17.56 ng/ml (median: 11.90 ng/ml), respectively (p=0.328). CSF concentrations for the same values were 2.02 ± 1.94 ng/ml (median: 0.23 ng/ml) and 3.28 ± 2.96 (median: 0.29 ng/ml), respectively (p=0.242). The differences between calculated numbers of serum/CSF ratios were not statistically significant too. The serum and CSF concentrations of 25-OH-D3 in  MS group were lower than the control counterpart without any statistical difference and the authors did not find any influence of serum 25-OH-D3 concentration on the CSF concentration based on the non-significant statistical difference between the serum/CSF ratios in  two study groups of MS patients and control cases.

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Relationship between Expanded Disability Status Scale scores and the presence of temporomandibular disorders in patients with multiple sclerosis

European Journal of Dentistry ◽

10.4103/ejd.ejd_91_17 ◽

2018 ◽

Vol 12 (01) ◽

pp. 144-148 ◽

Cited By ~ 2

Author(s):

Lucas Senra Correa Carvalho ◽

Osvaldo José Moreira Nascimento ◽

Luciane Lacerda Franco Rocha Rodrigues ◽

Andre Palma Da Cunha Matta

Keyword(s):

Multiple Sclerosis ◽

Temporomandibular Disorders ◽

Control Group ◽

Expanded Disability Status Scale ◽

Exact Test ◽

Disability Status ◽

Relapsing Remitting ◽

Scale Scores ◽

Axis I ◽

Relapsing Remitting Multiple Sclerosis

ABSTRACTObjectives: The objectives of this study were to assess the prevalence of temporomandibular disorders (TMDs) in patients with relapsing-remitting multiple sclerosis (MS) and to investigate whether an association exists between the presence of TMD symptoms and the degree of MS-related disability. Materials and Methods: In all, 120 individuals were evaluated: 60 patients with a diagnosis of relapsing-remitting MS and 60 age- and sex-matched controls without neurological impairments. A questionnaire recommended by the European Academy of Craniomandibular Disorders for the assessment of TMD symptoms was administered. For those who answered affirmatively to at least one of the questions, the RDC/TMD Axis I instrument was used for a possible classification of TMD subtypes. The Expanded Disability Status Scale (EDSS) was the measure of the degree of MS-related disability. Statistical Analysis Used: Fisher’s exact test was used to analyze the data. ANOVA was used to detect significant differences between means and to assess whether the factors influenced any of the dependent variables by comparing means from the different groups. Results: The prevalence of TMD symptoms in patients with MS was 61.7% versus 18.3% in the control group (CG). A diagnosis of TMD was established for 36.7% in the MS group and 3.3% in the CG (P = 0.0001). There were statistically significant differences between degrees of MS-related disability and the prevalence of TMD (P = 0.0288). Conclusions: The prevalence of both TMD and TMD symptoms was significantly greater in the MS group. EDSS scores and TMD prevalence rates were inversely related.

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Validation of the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) in the Russian Population

Journal of the International Neuropsychological Society ◽

10.1017/s1355617721000722 ◽

2021 ◽

pp. 1-8

Author(s):

Evgeniy Evdoshenko ◽

Kristina Laskova ◽

Maria Shumilina ◽

Ekaterina Nekrashevich ◽

Maria Andreeva ◽

...

Keyword(s):

Multiple Sclerosis ◽

Cognitive Assessment ◽

Verbal Learning ◽

Cognitive Status ◽

Russian Population ◽

Cognitive Domain ◽

Control Group ◽

Retest Reliability ◽

Valid Instrument ◽

Test Retest Reliability

Abstract Objective: Cognitive dysfunction is common in multiple sclerosis (MS). The Brief International Cognitive Assessment for MS (BICAMS) battery of tests has been suggested as a measure for the evaluation of the cognitive status of MS patients. This study aims to validate the BICAMS battery in the Russian population of MS patients. Methods: Age- and sex-matched MS patients (n = 98) and healthy individuals (n = 86) were included in the study. Symbol Digit Modalities Test (SDMT), California Verbal Learning Test, 2nd edition (CVLT-II) and the Brief Visuospatial Memory Test – Revised (BVMT-R) were administered to all participants. The battery was readministered 1 month later to 44 MS patients to investigate the test–retest reliability. Results: MS patients exhibited a significantly lower performance in testing with BICAMS than the control group in all three neuropsychological tests. Test–retest reliability was good for SDMT and CVLT-II (r = .82 and r = .85, respectively) and adequate for BVMT-R (r = .70). Based on the proposed criterion for impairment as z score below 1.5 SD the mean of the control group, we found that 34/98 (35%) of MS patients were found impaired at least in one cognitive domain. Patients with Expanded Disability Status Scale score ≥3.5 performed significantly worse than controls (SDMT, p < .0001; CVLT–II, p = .03; BVMT-R, p = .0004), while those with ≤3.0 scores did not. Conclusion: This study demonstrates that the BICAMS battery is a valid instrument to identify cognitive impairment in MS patients and it can be recommended for routine use in the Russian Federation.

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Predictive value of the neutrophil-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, platelet-to-neutrophil ratio, and neutrophil-to-monocyte ratio in lupus nephritis

Lupus ◽

10.1177/0961203320929753 ◽

2020 ◽

Vol 29 (9) ◽

pp. 1031-1039

Author(s):

Peng Liu ◽

Peiyuan Li ◽

Zhong Peng ◽

Yazhou Xiang ◽

Chenqi Xia ◽

...

Keyword(s):

Lupus Nephritis ◽

Healthy Subjects ◽

Area Under The Curve ◽

Neutrophil To Lymphocyte Ratio ◽

Control Group ◽

Receiver Operating Characteristic Curves ◽

Lymphocyte Ratio ◽

And Control ◽

First Time

Objective To evaluate the role of neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), platelet-to-neutrophil ratio (PNR), platelet-to-monocyte ratio (PMR), and neutrophil-to-monocyte ratio (NMR) as predictors for lupus nephritis (LN) patients without infection or as biomarkers for distinguishing between infection or flare with LN patients. Methods LN patients were divided into three groups: LN without infection, LN with infection, and LN with flare. A total of 57 healthy subjects were enrolled as controls. The differentiation was analyzed between LN without infection and control group, and LN with infection and LN with flare. Correlations among variables were assessed in the LN group without infection. Receiver operating characteristic curves were constructed in two comparable groups. Results NLR, PLR, and MLR were increased significantly in the LN group without infection as compared with those in healthy controls. NLR (area under the curve (AUC): 0.75) and MLR (AUC: 0.79) were useful for distinguishing between LN patients without infection and healthy subjects. In differentiating LN patients without infection from the controls, optimal cutoffs of NLR and MLR were 3.43 (sensitivity: 45.6%, specificity: 96.5%, and overall accuracy: 68.8%) and 0.24 (sensitivity: 75.0%, specificity: 73.7%, and overall accuracy: 73.6%), respectively. In addition, NLR ( r = 0.322, p = 0.011) and PLR ( r = 0.283, p = 0.026) were positively correlated with CRP. Importantly, NLR and NMR were increased while PNR was decreased in the LN group with infection in comparison with those in the LN group with flare. NLR (AUC: 0.80), NMR (AUC: 0.78), and PNR (AUC: 0.74) were useful in differentiating LN patients with infection and flare, and their optimal cutoffs were 4.02 (sensitivity: 82.6%, specificity: 69.6%, and overall accuracy: 75.5%), 12.19 (sensitivity: 80.4%, specificity: 73.9%, and overall accuracy: 77.5%), and 28.26 (sensitivity: 65.2%, specificity: 76.8%, and overall accuracy: 71.6%), respectively. Conclusions We demonstrated, for the first time, that MLR or NMR had the best accuracy in differentiating LN patients without infection from healthy subjects, or differentiating infection from flare in LN patients, respectively. Our results implied that NLR, MLR, PNR, and NMR may be useful biomarkers in predicting LN.

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