MtDNA T4216C variation in multiple sclerosis: a systematic review and meta-analysis

Andalib, Sasan; Emamhadi, Mohammadreza; Yousefzadeh-Chabok, Shahrokh; Salari, Arsalan; Sigaroudi, Abdolhosein Emami; Vafaee, Manouchehr Seyedi

doi:10.1007/s13760-016-0675-5

Cited by 19 publications

(10 citation statements)

References 33 publications

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“…There are now over 100 loci identified in the HLA region found to be associated with susceptibility and over 200 in non-HLA loci [92]. Several single site mutations in mtDNA have been reported to increase the risk of MS, including the mtDNA nt13708A [93] and mtDNA T4216C [94] variants. A large consortium study by Tranah et al examined mitochondrial DNA sequence variation and MS risk.…”

Section: Mitochondrial Mutations In Multiple Sclerosis and Overlapmentioning

confidence: 99%

Mitochondrial Dysfunction and Multiple Sclerosis

Barcelos

Troxell

Graves

2019

Biology

165

132

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In recent years, several studies have examined the potential associations between mitochondrial dysfunction and neurodegenerative diseases such as multiple sclerosis (MS), Parkinson’s disease and Alzheimer’s disease. In MS, neurological disability results from inflammation, demyelination, and ultimately, axonal damage within the central nervous system. The sustained inflammatory phase of the disease leads to ion channel changes and chronic oxidative stress. Several independent investigations have demonstrated mitochondrial respiratory chain deficiency in MS, as well as abnormalities in mitochondrial transport. These processes create an energy imbalance and contribute to a parallel process of progressive neurodegeneration and irreversible disability. The potential roles of mitochondria in neurodegeneration are reviewed. An overview of mitochondrial diseases that may overlap with MS are also discussed, as well as possible therapeutic targets for the treatment of MS and other neurodegenerative conditions.

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Section: Mitochondrial Mutations In Multiple Sclerosis and Overlapmentioning

confidence: 99%

Mitochondrial Dysfunction and Multiple Sclerosis

Barcelos

Troxell

Graves

2019

Biology

165

132

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“…MS is traditionally held to be the white matter disease (3) wherein lymphocytes invade the oligodendrocytes providing the myelin sheaths (4,5); however, neurodegenerative process has recently been recognized in the MS (6). Despite the fact that etiology of MS is not properly understood, infectious agents (7) and genetic changes (8,9) are said to play roles in the complex pathobiology of MS. The symptoms of MS are diverse.…”

Section: Introductionmentioning

confidence: 99%

Non-adherence to Disease-Modifying Treatments in Patients with Multiple Sclerosis

Roudbary

Yousefzadeh-Chabok

Behzadnia

et al. 2017

Caspian.J.Neurol.Sci

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Background: Multiple Sclerosis (MS) is a debilitating disease of the central nervous system. Usually, long-term MS medications are injected intramuscularly or subcutaneously, making them intolerable for many MS patients. Objectives:In the present study, the rate and the causes of non-adherence to MS disease-modifying drugs (DMDs) were assessed in patients with MS. Materials and Methods:Two hundred and three MS patients of Guilan MS Society were interviewed demographic and clinical data of the patients were collected. Results:Among the 203 patients, 73.9% were female. The mean±SD age of the patients was 32.47±9.15. Non-adherence to DMDs was due to side effects (21.7%) and requests of the families (21.7%) or ineffectiveness (17.4%). Significant association was seen between the non-adherence to DMDs and gender (p=0.015) and relapses (p=0.021). Conclusion:The evidence from the present study suggests that there is a high rate of non-adherence to DMDs in MS patients in Guilan. Keywords: Multiple Sclerosis; Medication Adherence Bullet points: Disease-modifying drugs are somehow intolerable for patients with MS. A high rate of nonadherence to DMDs in MS patients was demonstrated.

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“…MtDNA 106,187,188,189,190). MtDNA variations have been demonstrated to be associated with susceptibility to stroke in specific populations.…”

Section: Mtdna Alterations In Strokementioning

confidence: 99%

“…Capillary blood flow is never fully recovered, even after recanalisation, when cerebral blood flow may be reduced to half (Ref. 106). Figure 4 illustrates pericyte constriction because of cerebral ischaemia, leading to increased resistance to blood flow.…”

Section: Pericytes In MI and Strokementioning

confidence: 99%

Pandora's Box: mitochondrial defects in ischaemic heart disease and stroke

Andalib¹,

Divani

Michel

et al. 2017

Expert Rev. Mol. Med.

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Ischaemic heart disease and stroke are vascular events with serious health consequences worldwide. Recent genetic and epigenetic techniques have revealed many genetic determinants of these vascular events and simplified the approaches to research focused on ischaemic heart disease and stroke. The pathogenetic mechanisms of ischaemic heart disease and stroke are complex, with mitochondrial involvement (partially or entirely) recently gaining substantial support. Not only can mitochondrial reactive oxygen species give rise to ischaemic heart disease and stroke by production of oxidised low-density lipoprotein and induction of apoptosis, but the impact on pericytes contributes directly to the pathogenesis. Over the past two decades, publications implicate the causative role of nuclear genes in the development of ischaemic heart disease and stroke, in contrast to the potential role of mitochondrial DNA (mtDNA) in the pathophysiology of the disorders, which is much less understood, although recent studies do demonstrate that the involvement of mitochondria and mtDNA in the development of ischaemic heart disease and stroke is likely to be larger than originally thought, with the novel discovery of links among mitochondria, mtDNA and vascular events. Here we explore the molecular events and mtDNA alterations in relation to the role of mitochondria in ischaemic heart disease and stroke.

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MtDNA T4216C variation in multiple sclerosis: a systematic review and meta-analysis

Cited by 19 publications

References 33 publications

Mitochondrial Dysfunction and Multiple Sclerosis

Mitochondrial Dysfunction and Multiple Sclerosis

Non-adherence to Disease-Modifying Treatments in Patients with Multiple Sclerosis

Pandora's Box: mitochondrial defects in ischaemic heart disease and stroke

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