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Imprinted Genes and Multiple Sclerosis: What Do We Know?

ABSTRACT: Multiple sclerosis (MS) is a chronic autoimmune neurodegenerative disease of the central nervous system that arises from interplay between non-genetic and genetic risk factors. The epigenetics functions as a link between these factors, affecting gene expression in response to external influence, and therefore should be extensively studied to improve the knowledge of MS molecular mechanisms. Among others, the epigenetic mechanisms underlie the establishment of parent-of-origin effects that appear as phenotypic differences depending on whether the allele was inherited from the mother or father. The most well described manifestation of parent-of-origin effects is genomic imprinting that causes monoallelic gene expression. It becomes more obvious that disturbances in imprinted genes at the least affecting their expression do occur in MS and may be involved in its pathogenesis. In this review we will focus on the potential role of imprinted genes in MS pathogenesis.

SUBMITTER: Baulina N

PROVIDER: S-EPMC7866243 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Imprinted Genes and Multiple Sclerosis: What Do We Know?

Baulina Natalia N Kiselev Ivan I Favorova Olga O

International journal of molecular sciences 20210129 3

Multiple sclerosis (MS) is a chronic autoimmune neurodegenerative disease of the central nervous system that arises from interplay between non-genetic and genetic risk factors. The epigenetics functions as a link between these factors, affecting gene expression in response to external influence, and therefore should be extensively studied to improve the knowledge of MS molecular mechanisms. Among others, the epigenetic mechanisms underlie the establishment of parent-of-origin effects that appear ...[more]

PMID: 33572862

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Project description:Multiple sclerosis (MS) has a varied and uncertain trajectory. The recent development of analytical processing tools that draw on large longitudinal patient databases facilitates personalised long-term prognosis estimates. This has the potential to improve both shared treatment decision-making and psychological adjustment. However, there is limited research on how people with MS feel about prognosis communication and forecasting. This study investigated the prognosis communication experiences and preferences of people with MS and explored whether clinical, demographic and psychological factors are associated with prognosis information preferences.3175 UK MS Register members (59% of those with active accounts) completed an online survey containing 17 questions about prognosis communication experiences, attitudes and preferences. Participants also completed validated questionnaires measuring coping strategies, tendencies to seek out ('monitor') or avoid ('blunt') information in threatening situations, and MS risk perceptions and reported their clinical and sociodemographic characteristics. Data already held on the MS Register about participants' quality of life, anxiety and depression symptoms and MS impact were obtained and linked to the survey data.53.1% of participants had never discussed long-term prognosis with healthcare professionals. 54.2% lacked clarity about their long-term prognosis. 76% had strong preferences for receiving long-term prognosis information. 92.8% were interested in using tools that generate personalised predictions. Most participants considered prognostication useful for decision-making. Participants were more receptive to receiving prognosis information at later time-points, versus at diagnosis. A comprehensive set of sociodemographic, clinical and psychological variables predicted only 7.9% variance in prognosis information preferences.People with MS have an appetite for individualised long-term prognosis forecasting and their need for information is frequently unmet. Clinical studies deploying and evaluating interventions to support prognostication in MS are now needed. This study indicates suitable contexts and patient preferences for initial trials of long-term prognosis tools in clinical settings.

Dataset Information

Imprinted Genes and Multiple Sclerosis: What Do We Know?

Publications

Imprinted Genes and Multiple Sclerosis: What Do We Know?

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