Hereditary spastic paraplegia type 35 with a novel mutation in fatty acid 2-hydroxylase gene and literature review of the clinical features

[No abstract available

Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia

Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene). © 2018 Journal of Pediatric Neurosciences | Published by Wolters Kluwer-Medknow

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

PubMedID: 28694399Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance. Recent developments in genetics of hereditary cardiomyopathy have not only enlightened many points about pathogenesis, but have also provided great benefit to diagnostic approaches of clinicians. Heterozygous mutation of c3691- 3692insTTCA in MYBPC3 gene was identified in a pediatric patient with diagnosis of hypertrophic cardiomyopathy at clinic. Hypertrophy was observed in sister and father of the patient in echocardiography screening, and it was subsequently determined that they also had same mutation. This mutation has not previously been defined and reported previously in the literature as cause of hypertrophic cardiomyopathy. © 2017 Turkish Society of Cardiology

No association between polymorphisms of Vitamin D and oxytocin receptor genes and autistic spectrum disorder in a sample of Turkish Children

Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey. Copyright © 2018, Korean College of Neuropsychopharmacology.115S864This project was supported by TUBITAK (The Scientific and Technological Research Council of Turkey, Project No: 115S864)

The protection of resveratrol and its combination with glibenclamide, but not berberine on the diabetic hearts against reperfusion-induced arrhythmias: the role of myocardial K ATP channel

PubMed ID: 29457517Context: Cardiovascular dysfunctions such as life-threatening arrhythmias are one of the main reasons of mortality and morbidity in diabetic patients Objective: We aimed to investigate the long-term effects of resveratrol, berberine and glibenclamide combinations on the ischemia/reperfusion (I/R) induced arrhythmias in streptozotocin (STZ)-induced diabetic rats and to investigate the role of myocardial K ATP channel in the possible anti-arrhythmic actions of the treatments. Methods: Two days after induction of diabetes, diabetic rats were treated with resveratrol [5 mg/kg, intraperitoneally (i.p.)], berberine (10 mg/kg, i.p) and glibenclamide (5 mg/kg, i.p) for 6 weeks. On the 43th day, experimental animals were subjected to 6-min ischemia and 6-min reperfusion in vivo. Results: The protein expression of Kir6.2 subunits was downregulated in the diabetic hearts. However, all drug treatments restored the protein expression of Kir6.2 subunits. Resveratrol alone and its combination with glibenclamide decreased the arrhythmia score, the arrhythmic period and the incidence of other types of arrhythmias during the reperfusion period. Conclusions: The combination of resveratrol with glibenclamide may alleviate reperfusion-induced arrhythmias via an underlying mechanism not be only associated with the restoration of the protein expression of Kir6.2 subunits but also associated with the other subunits or ion channels underlying cardiac action potential. © 2018, © 2018 Informa UK Limited, trading as Taylor & Francis Group.Fundamental Research Fund of Shandong University Abant Izzet Baysal ÜniversitesiWe would like to thank Abant Izzet Baysal University Research Fund for supporting the study [Project No.: 2015.03.01.823]

ß-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: Results from a single center study

Introduction: ß-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of ß-thalassemia and hemoglobinopathies in Adana, which is one of the biggest cities located in the southern part of Turkey. Material and methods: Data from 3000 individuals admitted to Seyhan Hereditary Blood Disorders Center in Adana were evaluated. The blood samples were collected into EDTA-containing tubes and hematological parameters were analyzed using an automatic cell counter. High performance liquid chromatography technique was used to determine the type of hemoglobin. Molecular screening of the ß-globin gene was performed with ß-Globin StripAssay. Results: Of 3000 cases, 609 were diagnosed as ß-thalassemia or hemoglobinopathy. We have found that the rates of occurrence of ß-thalassemia and hemoglobinopathies are 13.46% and 6.83% respectively in this area. We have identified 18 different ß-thalassemia mutations and three separate abnormal hemoglobins: HbS, HbD Los Angeles, and HbE. In molecular analyses, ß-thalassemia gene mutations of IVSI.110 (G>A), codon 8 (-AA), IVSI.1 (G>A), IVSI.6 (T>C), -30 (T>A), IVSII.1 (G>A), codon 39 (C>T), codon 44 (-C), IVSI.5 (G>C), codon 5 (-CT), codon 8/9 (+G), IVSII.745 (C>G), codon 22 (7bp del), -101(C>T), codon 36/37 (-T), IVSI.15 (T>G), codon 6 (-A), -88 (G>A) were detected. Conclusions: Considering the high incidence of mutations that we have found, ß-thalassemia and hemoglobinopathies still seem to be a public health problem in Adana. Copyright © 2012 Termedia & Banach

Plasminogen activator inhibitor-1 5G/5G genotype is associated with early spontaneous recanalization of the infarct-related artery in patients presenting with acute ST-elevation myocardial infarction

PubMedID: 23283030BACKGROUND: We aimed to examine the association between plasminogen activator inhibitor-1 (PAI-1) genetic polymorphism and early spontaneous recanalization in patients presenting with acute ST-elevation myocardial infarction. METHODS: Patients admitted to our emergency department with ST-elevation myocardial infarction in the first 6 h of symptom onset were included. An immediate primary percutaneous coronary intervention was performed. Patients were grouped according to the initial patency of the infarct-related artery (IRA) as follows: total occlusion (TO) group [Thrombolysis in Myocardial Infarction (TIMI) 0-1 flow in the IRA], partial recanalization group (TIMI 2 flow in the IRA), and complete recanalization (CR) group (TIMI 3 flow in the IRA). PAI-1 4G/5G polymorphism was detected using the real-time PCR method. RESULTS: There were 107 patients in the TO group, 30 patients in the partial recanalization group, and 45 patients in the CR group. When we evaluated degrees of patency according to the PAI-1 genotype, TO of the IRA was the highest in patients with the PAI 4G/4G genotype (PAI-1 4G/4G: 66.7%, PAI-1 4G/5G: 65.9%, PAI-1 5G/5G: 40.4%) and CR of the IRA was the highest in patients with the PAI 5G/5G genotype (PAI-1 5G/5G: 38.5%, PAI-1 4G/5G: 19.8%, PAI-1 4G/4G: 17.9%). The distribution of genotypes in different degrees of patency of IRA was statistically significant (P=0.029). In logistic regression analysis, the PAI-1 5G/5G genotype was associated independently with the spontaneous CR of the IRA (odds ratio: 2.875, 95% confidence interval [1.059-7.086], P=0.038). CONCLUSION: Patients with the PAI-1 5G/5G genotype seem to be luckier than others in terms of early spontaneous recanalization of the IRA. Further prospective studies with large patient populations are required for more precise results. © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

ß-Globin chain abnormalities with coexisting ?-thalassemia mutations

Introduction: The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in ?- and ß-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary. Material and methods: We studied the association between the ß-globin gene and ?-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique. Results: We evaluated 36 adult subjects (28 female and 8 male; age range: 18-52 years) with concomitant mutations in their ? - and ß- globin genes. The - ? 3.7/?? deletion was the commonest defect in the ?-chain as expected, followed by ? 3.7 /-? 3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting ?-thalassemia, while seven Hb S/S patients had concurrent mutations in their ?-genes. The coexistence of ? PolyA-2?/?? with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for ß-globin chain (-? 3.7/?? with IVSI.110/S), and also a case who had -? 3.7/?? deletion with IVSI.110/A. Conclusions: Although limited, our data suggest that it would be valuable to study coexisting ?-globin mutations in subjects with sickle cell disease or ß-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies. Copyright © 2012 Termedia & Banach