Mutation/SNP analysis in EF-hand calcium binding domain of mitochondrial Ca[Formula: see text] uptake 1 gene in bipolar disorder patients.
Calcium signaling is important for synaptic plasticity, generation of brain rhythms, regulating neuronal excitability, data processing and cognition. Impairment in calcium homeostasis contributed to the development of psychiatric disorders such as bipolar disorder (BP). MCU is the most important calcium transporter in mitochondria inner membrane responsible for influx of Ca[Formula: see text]. MICU1 is linked with MCU and has two canonical EF hands that are vital for its activity and regulates MCU-mediated Ca[Formula: see text] influx. In the current study, we aimed to investigate the role of genetic alteration of EF hand calcium binding motifs of MICU1 on the development of BP. We examined patients with BP, first degree relatives of these patients and healthy volunteers for mutations and polymorphisms in EF hand calcium binding motifs of MICU1. The result showed no SNP/mutation in BP patients, in healthy subjects and in first degree relatives. Additionally, alignment of the EF hand calcium binding regions among species (Gallus-gallus, Canis-lupus-familiaris, Bos-taurus, Mus-musculus, Rattus-norvegicus, Pan-troglodytes, Homosapiens and Danio-rerio) showed exactly the same amino acids (DLNGDGEVDMEE and DCDGNGELSNKE) except in one of the calcium binding domain of Danio-rerio that there was only one difference; leucine instead of Methionine. Our results showed that the SNP on EF-hand Ca[Formula: see text] binding domains of MICU1 gene had no effect in phenotypic characters of BP patients.
* Izmir Biomedicine and Genome Center (IBG), University of Dokuz Eylul, Izmir, Turkey.
Roghaiyeh
R
Safari
† Department of Molecular Medicine, University of Dokuz Eylul, Izmir, Turkey.
Reza
R
Salimi
‡ Department of Mental Disorders, University of Dokuz Eylul, Izmir, Turkey.
Zeliha
Z
Tunca
‡ Department of Mental Disorders, University of Dokuz Eylul, Izmir, Turkey.
Aysegul
A
Ozerdem
‡ Department of Mental Disorders, University of Dokuz Eylul, Izmir, Turkey.
Deniz
D
Ceylan
§ Department of Medical Biology and Genetics, University of Dokuz Eylul, Izmir, Turkey.
Meral
M
Sakizli
D000328:Adult; D001714:Bipolar Disorder / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D017386:Sequence Homology, Amino Acid
D002135:Calcium-Binding Proteins; D027682:Cation Transport Proteins; C116241:MICU1 protein, human; D033681:Mitochondrial Membrane Transport Proteins
Bipolar disorder; EF-hand calcium binding domain; mitochondrial Ca uniporter; mitochondrial Ca uptake 1 (MICU1); mutation; single nucleotide polymorphism