Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?

Martina Piras1, Alessandra Scano2, Germano Orrù2, Antonio Preti3, Cinzia Marchese4, Goce Kalcev1, *
1 Innovation Sciences and Technologies, University of Cagliari, Cagliari, Italy
2 Department of Surgical Science, Molecular Biology Service Lab,, University of Cagliari, Cagliari, Italy
3 Department of Neuroscience, University of Turin, Turin, Italy
4 Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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© 2021 Piras et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at Innovation Sciences and Technologies, University of Cagliari, Italy, Via Ospedale, 46, 09124 Cagliari CA; E-mail: gocekalcev@yahoo.com


Bipolar disorder (BD) is amongst the most common heritable mental disorders, but the clarification of its genetic roots has proven to be very challenging. Many single nucleotide polymorphisms (SNPs) have been identified to be associated with BD. SNPs in the CACNA1C gene have emerged as the most significantly associated with the disease. The aim of the present study is to provide a concise description of SNP 1006737 variants identified by Real Time PCR and confirm sequencing analysis with the Sanger method in order to estimate the association with BD. The molecular method was tested on 47 Sardinian subjects of whom 23 were found to not be mutated, 1 was found to be a carrier of the homozygous A allele and 23 were found to be carriers of the heterozygous G allele. Moreover, the positive results of the preliminary application suggest that the development of the screener could be extended to the other 5 genetic variables identified as associated with BD.

Keywords: Bipolar disorder, Genes, CACNA1C, FRET probe, Evolutionary model, Mental disorder.