Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F17%3A10363549" target="_blank" >RIV/00064165:_____/17:10363549 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1016/j.jaut.2017.05.005" target="_blank" >http://dx.doi.org/10.1016/j.jaut.2017.05.005</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jaut.2017.05.005" target="_blank" >10.1016/j.jaut.2017.05.005</a>

Result language

angličtina

Original language name

Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins

Original language description

Objective: To identify novel genetic and epigenetic factors associated with Myasthenia gravis (MG) using an identical twins experimental study design. Methods: The transcriptome and methylome of peripheral monocytes were compared between mono zygotic (MZ) twins discordant and concordant for MG, as well as with MG singletons and healthy controls, all females. Sets of differentially expressed genes and differentially methylated CpGs were validated using RT-PCR for expression and target bisulfite sequencing for methylation on additional samples. Results: &gt;100 differentially expressed genes and similar to 1800 differentially methylated CpGs were detected in peripheral monocytes between MG patients and controls. Several transcripts associated with immune homeostasis and inflammation resolution were reduced in MG patients. Only a relatively few genes differed between the discordant healthy and MG co-twins, and both their expression and methylation profiles demonstrated very high similarity. Interpretation: This is the first study to characterize the DNA methylation profile in MG, and the expression profile of immune cells in MZ twins with MG. Results suggest that numerous small changes in gene expression or methylation might together contribute to disease. Impaired monocyte function in MG and decreased expression of genes associated with inflammation resolution could contribute to the chronicity of the disease. Findings may serve as potential new predictive biomarkers for disease and disease activity, as well as potential future targets for therapy development. The high similarity between the healthy and the MG discordant twins, suggests that a molecular signature might precede a clinical phenotype, and that genetic predisposition may have a stronger contribution to. disease than previously assumed

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Autoimmunity

ISSN

0896-8411

e-ISSN

—

Volume of the periodical

82

Issue of the periodical within the volume

August

Country of publishing house

GB - UNITED KINGDOM

Number of pages

12

Pages from-to

62-73

UT code for WoS article

000407537500006

EID of the result in the Scopus database

2-s2.0-85019638521