Mutation/SNP analysis in EF-hand calcium binding domain of mitochondrial Ca2+ uptake 1 gene in bipolar disorder patients

Safari R., Salimi R., Tunca Z., Ozerdem A., Ceylan D., Sakizli M.

JOURNAL OF INTEGRATIVE NEUROSCIENCE, cilt.15, sa.2, ss.163-173, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1142/s0219635216500096
  • Dergi Adı: JOURNAL OF INTEGRATIVE NEUROSCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.163-173
  • Anahtar Kelimeler: Bipolar disorder, single nucleotide polymorphism, mutation, EF-hand calcium binding domain, mitochondrial Ca2+ uptake 1 (MICU1), mitochondrial Ca2+ uniporter, UNIPORTER, MICU1, SCHIZOPHRENIA, MCU, RDOC
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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 Ca2+. MICU1 is linked with MCU and has two canonical EF hands that are vital for its activity and regulates MCU-mediated Ca2+ 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 Ca2+ binding domains of MICU1 gene had no effect in phenotypic characters of BP patients.