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    Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype
    (Pleiades Publishing Ltd, 2023) Dogan, Mustafa; Akbulut, Ekrem; Gezdirici, Alper; Eroz, Recep; Bozdogan, Sevcan Tug
    Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy that usually preserves the quadriceps and presents with bilateral foot drop, usually caused by anterior tibialis weakness. In patients with Nonaka myopathy, serum creatine kinases are slightly elevated, muscle weakness progresses slowly, and ambulation loss develops after 15-20 yr. The current study aims to raise awareness of Nonaka myopathy that occurs as a rare phenotype due to pathogenic variants in GNE gene. Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family were done by Sanger sequencing. Also the homology model of the mutant protein was created with the ProMod3 algorithm. We identified a bialelic pathogenic variant (c.830G>A) in GNE gene, which explain the patients' clinical status. We present the main findings of two siblings with Nonaka myopathy together with detailed clinical and genetic profiles of the patients together with a three-dimensional mutant GNE protein model. We think that the clinical characteristics and the effect of the (c.830G>A) variant will facilitate our understanding of GNE gene in Nonaka myopathy pathogenesis.
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    Effect of combined anti-inflammatory and antioxidant therapy on ischemia-reperfusion injury in rat ovary: an experimental study
    (E-Century Publishing Corp, 2016) Kaya, Murat; Ozkan, Aybars; Eroz, Recep; Soyer, Tutku; Kabaklioglu, Murat; Oktay, Murat; Demirin, Hilmi
    An experiemental study was performed to evaluate the effect of combined anti-inflammatory and antioxidant theraphy on ischemia-reperfusion injury in rat ovary. Also the results of combined theraphy is aimed to compared with monotherapy. Fifty-four female Wistar rats were randomly divided into 9 equal groups (n=6). In Sham group right ovaries of the rats were sampled without generating ischemia and reperfusion injury via median laparatomy. Ischemia/Reperfusion (I/R) was performed by clamping the vascular supply of right ovary for 3 hours (I/R 1 group) and 6 hours (I/R 2 group), respectively. After one hour reperfusion, rats recieved 20 mg/kg Methylprednisolone (Pred 1; 3 hours ischemia and Pred 2; 6 hours ischemia) and 50 mg/kg Vitamin C (Vit C 1; 3 hours ischemia and Vit C 2; 6 hours ischemia). The combined therapy groups (Pred+Vit C 1 and Pred+Vit C 2) were adminstered same doses of both Methylprednisolone and Vitamin C. Rats were sacrifed after 24 hours of reperfusion and ovarian tissues were sampled for oxidative markers [malondialdehyde (MDA), superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx)] biochemically. Histopathological findings of inflammation (follicular cell degeneration, vascular congestion, hemorrhage and infiltration by inflammatory cells) were also evaluated with an injury score grading normal findings to severe injury (Grade 0 to 3). The results were compared among groups. Mean levels of antioxidant enzymes and histopathologic grades showed significant difference among groups (P<0.05). MDA and CAT levels were lower in Pred+Vit C 1 than Pred 1, Vit C 1 and I/R 1 (P<0.05). SOD and CAT levels were lower in Pred+Vit C 2 than Pred 2 and I/R 2. Total injury scores were lower in Pred+Vit C 1 and Pred+Vit C 2 than I/R 1 and I/R 2 (P<0.05). The combined treatment of anti-oxidant and anti-inflammatory theraphy reduces the biochemical and histopathologic findings of I/R injury in rat ovary. These results are significantly comparable with the effect of monotheraphy.
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    Heterozygous c.1730G >C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia
    (University of Nis, Faculty of Medicine, 2022) Doǧan, Mustafa; Koksal, Mehmet; Eroz, Recep
    Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with a very rare heterozygous c.1730G >C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore, region-specific diagnostic criteria should be developed. Conclusion: We aimed to contribute to the literature on the development of diagnostic criteria by discussing the patient's condition with the clinical results. © 2022 Sciendo. All rights reserved.
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    Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review
    (Elsevier, 2025) Yavas, Cuneyd; Dogan, Mustafa; Ozgor, Bilge; Akbulut, Ekrem; Eroz, Recep
    Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness. Method: Detailed family histories and medical data were collected. Segregation analysis was performed using Sanger sequencing and whole exome sequencing. Additionally, a review of molecularly confirmed patients was conducted. Protein tertiary structures expressed in the IGHMBP2 gene were tested for topological and conformational changes using modeling programs and in-silico tools. Results: We identified a novel homozygous nonsense mutation (c.2568_2569del p.Gly857Alafs*27) in a family with a member showing neuropathy. This report details the clinical and genetic findings of the affected individuals, including a Turkish patient with neuropathy, and compares them with literature cases. Conclusion: Understanding the clinical impact of the (c.2568_2569del p.Gly857Alafs*27) mutation will enhance our knowledge of IGHMBP2 gene defects role in neuropathy. This study aims to highlight this severe recessive disease caused by pathogenic IGHMBP2 gene mutations and to examine the mutation spectrum and phenotype differences.