Screening for Copy Number Variations of the 15q13.3 Hotspot in CHRNA7 Gene and Expression in Patients with Migraines

• Published in: Current issues in molecular biology 2021-09, Vol.43 (2), p.1090-1113
• Main Authors: Özaltun, Mehmet Fatih, Geyik, Sırma, Yılmaz, Şenay Görücü
• Format: Article
• Language: English
• Subjects: alpha7 Nicotinic Acetylcholine Receptor - genetics; alpha7 Nicotinic Acetylcholine Receptor - metabolism; biomarkers; cholinergic agents; Cholinergic Agents - pharmacology; chromosome 15q13.3 microdeletion syndrome; chromosome deletion; DNA copy number variation; DNA Copy Number Variations - genetics; Down-Regulation; Humans; migraine; Migraine Disorders - genetics
• ISSN: 1467-3045; 1467-3037; 1467-3045
• DOI: 10.3390/cimb43020078

a migraine is a neurological disease. Copy number variation (CNV) is a phenomenon in which parts of the genome are repeated. We investigated the effects of the CNV and gene expression at the location 15q13.3 in the Cholinergic Receptor Nicotinic Alpha 7 Subunit ( ) gene, which we believe to be effective in the migraine clinic. we evaluated changes in gene expression levels and CNV of 15q13.3 in patients with migraine ( = 102, with aura, = 43; without aura, = 59) according to healthy controls ( = 120) by q-PCR. The data obtained were analyzed against the reference telomerase reverse transcriptase ( ) gene with the double copy number by standard curve analysis. Copy numbers were graded as a normal copy (2), gain (2>), and loss ( 0.05). The change in CNV was not associated with the downregulation of the gene. Downregulation of the gene may contribute to the formation of migraine by inactivation of the alpha-7 nicotinic receptor (α7nAChR). The association of CNV gains and losses with migraines will lead to better understanding of the molecular mechanisms and pathogenesis, to better define the disease, to be used as a treatment target.