Preliminary Study on the Role of TMEM39A Gene in Multiple Sclerosis

• Published in: Journal of molecular neuroscience Vol. 62; no. 2; pp. 181 - 187
• Main Authors: Wagner, Marta, Sobczyński, Maciej, Bilińska, Małgorzata, Pokryszko-Dragan, Anna, Cyrul, Małgorzata, Kuśnierczyk, Piotr, Jasek, Monika
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-06-2017; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Cell Biology; DNA Methylation; Female; Gene expression; Genes; Genome-wide association studies; Genomes; Health risks; Humans; Male; Membrane Proteins - genetics; Membrane Proteins - metabolism; Multiple sclerosis; Multiple Sclerosis - genetics; Multiple Sclerosis - pathology; Neurochemistry; Neurology; Neurosciences; Patients; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Proteomics; Ribonucleic acid; RNA; RNA, Messenger - genetics; RNA, Messenger - metabolism; Multiple sclerosis; Methylation; mRNA expression; Polymorphism; TMEM39A
• ISSN: 0895-8696; 1559-1166
• DOI: 10.1007/s12031-017-0921-1

Genome-wide association studies (GWAS) have identified hundreds of new potential genetic risk
loci
associated with numerous complex diseases such as multiple sclerosis (MS). Genes which have been discovered by GWAS are now the focus of numerous ongoing studies. The goal of this study was to confirm and understand the potential role of one of such genes—transmembrane protein 39A gene (
TMEM39A
)—in multiple sclerosis.
We showed the difference in
TMEM39A
messenger RNA (mRNA) expression between MS patients and controls (
T
2
2;74
 = 5.429;
p
 = 0.0063). In our study, the lower mRNA expression of
TMEM39A
gene in patients did not correlate with a higher methylation level of the
TMEM39A
promoter. Moreover, a decreased level of
TMEM39A
mRNA was associated neither with rs1132200 nor with rs17281647. Additionally, we did not find an association between these two
TMEM39A
polymorphisms and the risk and progression of multiple sclerosis.
Our investigation is the first which indicates that
TMEM39A
mRNA expression may be associated with the development and/or course of multiple sclerosis.