👤 Cumhur Gunduz

Hepatitis B is a significant public health issue worldwide. Long noncoding RNAs (lncRNAs) are pivotal in biological mechanisms. The involvement of lncRNAs in hepatitis Hepatitis B remains incompletely understood. This study sought to explore the potential of certain lncRNAs as diagnostic and prognostic markers in hepatitis B, and their ability to differentiate between clinical disease subgroups. Plasma samples from 204 individuals diagnosed with hepatitis B were meticulously examined for the presence of specific lncRNAs, focusing on those known to be associated with hepatitis B as indicated in the literature. In this study, gene expression levels of 14 lncRNAs were analyzed in three subgroups (chronic, recovered and inactive HBsAg carriers) and compared with those in the healthy control group. The downregulation of the RN7SL1 and Alpha-280 genes in all patients indicates potential diagnostic lncRNAs. ZFHX2-AS1 expression was consistently lower in all subgroups, while SRA1 showed high expression in recovered hepatitis B patients, indicating that it is a descriptive marker. DLG2-AS2 expression increased in the chronic hepatitis B but decreased in the other groups. These findings reveal the prognostic importance of lncRNAs in hepatitis B. The expression levels of ZFHX2-AS1, RN7SL1, PCAT-1, PCA3, SRA1 and Alpha-280 have been identified as crucial biomarkers for the diagnosis of hepatitis B and for distinguishing between its clinical subgroups. A strong association between hepatitis B disease and the gene expression of the DLG2-AS2, HOTTIP, HOTAIRM1, HOXA11-AS, NOS2P3, LINC02665, MEG9, and RNY5 lncRNAs has been suggested. Show less

The 17q21.31 microdeletion syndrome is characterized by intellectual disability, epilepsy, facial dysmorphism and friendly behavior. Recently, KANSLJ gene has been considered as a major causal gene for this phenotype. Here we report on two Turkish patients with different seizure types and additional dysmorphic features associated with 17q21.31 microdeletion syndrome. A 4 year-old female patient with generalized tonic-clonic seizures, mild mental retardation, dysmorphic features and friendly behavior and a 14 years-old female with intractable epilepsy, different dysmorphic features, severe mental and motor retardation and self-mutilation were evaluated by array-based comparative genomic hybridization (microarray CGH). Array CGH identified 17q21.31 microdeletion that contains MAP7 CRHR1, KANSLI, PLEKHMI genes in case I and CRHR1, PLEKHM but not KANSLJgenes in case 2. To the best of our knowledge this is the first report of a patient with the 17q21.31 microdeletion which does not encompass KANSLI gene. These data imply another gene or genes causing similar phenotype in this patient. Show less

Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment. CPS1 catalyzes carbamoyl phosphate formation from ammonia, bicarbonate and two molecules of ATP, and requires the allosteric activator N-acetyl-L-glutamate. Clinical mutations occur in the entire CPS1 coding region, but mainly in single families, with little recurrence. We characterized here the only currently known recurrent CPS1 mutation, p.Val1013del, found in eleven unrelated patients of Turkish descent using recombinant His-tagged wild type or mutant CPS1 expressed in baculovirus/insect cell system. The global CPS1 reaction and the ATPase and ATP synthesis partial reactions that reflect, respectively, the bicarbonate and the carbamate phosphorylation steps, were assayed. We found that CPS1 wild type and V1013del mutant showed comparable expression levels and purity but the mutant CPS1 exhibited no significant residual activities. In the CPS1 structural model, V1013 belongs to a highly hydrophobic β-strand at the middle of the central β-sheet of the A subdomain of the carbamate phosphorylation domain and is close to the predicted carbamate tunnel that links both phosphorylation sites. Haplotype studies suggested that p.Val1013del is a founder mutation. In conclusion, the mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble. Recurrence of this particular mutation in Turkish patients is likely due to a founder effect, which is consistent with the frequent consanguinity observed in the affected population. Show less