Clinical Psychopharmacology and Neuroscience Papers in Press available online.

 
Relation of ATPase6 mutations and telomere length in Schizophrenia patients
Sevgi KARABULUT UZUNCAKMAK , Ebubekir DIRICAN , Halil OZCAN , Ugur TAKIM
1 Health Services Vocational School, Bayburt University, 2Faculty of Medicine, Department of Psychiatry, Atatürk University
Abstract
Objectives: Schizophrenia is a serious mental disorder. Mitochondrial dysfunction leads to deteriorations of the energy state of cells resulting in variations of myelination, neuronal development, neural connections. Mutations in mitochondrial genes can change energy metabolism. Telomere is a tandem sequence at the end of chromosomes. Shorter telomere length has been shown in schizophrenia. The aim of this study was to determine the relationship between ATPase6 gene mutations and telomere length in schizophrenia patients.
Method: Blood samples of 34 patients and 34 healthy controls were used. In this study conventional PCR, Sanger sequencing technic and real-time PCR were utilized.
Results: Five different mutations (A8860G, A8836, G8697A, C8676T, and A8701G) in the ATPase6 gene were identified in schizophrenia patients. The most seen mutation was A8860G (94%). Telomere length analysis indicated the relation of ATPase6 gene mutations and telomere length variations(p=0,001). Patients carrying the A8860G mutation had shorter telomere lengths than patients carrying other mutations. Comparing telomere length between schizophrenia patients and healthy controls revealed that the mean telomere length of schizophrenia patients was shorter than healthy controls (p=0,0060). The demographic analysis demonstrated a significant relationship between marital status and telomere length (p=0,0110). Besides that, the duration of the illness is another factor that impacts telomere length (p=0,0444). There is no significant relation between telomere length and other clinical and demographic characteristics including education status, age, gender, etc.
Conclusion: In conclusion, telomere length and ATPase6 gene mutations have a significant relation. Studies with larger patient populations and investigation of other mitochondrial gene mutations will make the clearer link between telomere length and mitochondrial mutations.
Accepted Manuscript [Submitted on 2021-10-14, Accepted on 2022-01-06]