Huntington's Disease - Core Concepts and Current Advances

Huntington's Disease is one of the well-studied neurodegenerative conditions, a quite devastating and currently incurable one. It is a brain disorder that causes certain types of neurons to become damaged, causing various parts of the brain to deteriorate and lose their function. This results in uncontrolled movements, loss of intellectual capabilities and behavioural disturbances. Since the identification of the causative mutation, there have been many significant developments in understanding the cellular and molecular perturbations. This book, ""Huntington's Disease - Core Concepts and Current Advances"", was prepared to serve as a source of up-to-date information on a wide range of issues involved in Huntington's Disease. It will help the clinicians, health care providers, researchers, graduate students and life science readers to increase their understanding of the clinical correlates, genetic aspects, neuropathological findings, cellular and molecular events and potential therapeutic interventions involved in HD. The book not only serves reviewed fundamental information on the disease but also presents original research in several disciplines, which collectively provide comprehensive description of the key issues in the area

SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients

Teratozoospermia is a condition related to poor morphologically normal sperm count below the lower reference limit, which could hinder natural conception. Single nucleotide polymorphisms (SNPs) in the genes involved in sperm production and testicular function are proved to be risk factors, resulting in decreased sperm parameters and defects in sperm morphology. c.474 G > A polymorphism in the SEPTIN12 gene which is one of the testis-specific genes creates a novel splice variant and the resulting truncated protein was previously found to be more prevalent in infertile men. We aimed to investigate the association of SEPTIN12 c.474 G > A polymorphism with male infertility in teratozoospermia patients. Forty-eight teratozoospermic patients, diagnosed according to Kruger's criteria and 164 fertile controls who fathered at least 1 child within 3 years without assisted reproductive technologies were included into our prospective randomized controlled study. PCR-RFLP method was used for genotyping. Although no statistical difference was found between teratozoospermic patients and fertile controls in terms of genotype distributions, significance was identified between the genotypes of all and non-smoking teratozoopermic patients in terms of neck defects. SEPTIN12 c.474 G > A polymorphism was shown to be associated with sperm neck defects in teratozoospermic patients using the dominant statistical model. Smoking was identified as a risk factor for the sperm morphology defects in teratozoospermic A allele carriers

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is a rare autosomal recessive disorder caused by the functional deficiency of the mitochondrial ornithine transporter 1 (ORC1). ORC1 is encoded by the SLC25A15 gene and catalyzes the transport of cytosolic ornithine into mitochondria in exchange for citrulline. Although the age of onset and the severity of the symptoms vary widely, the disease usually manifests in early infancy. The typical clinical features include protein intolerance, lethargy, episodic confusion, cerebellar ataxia, seizures and mental retardation. In this study, we identified a novel p.Ala15Val (c.44C > T) mutation by genomic DNA sequencing in a Turkish child presenting severe tantrum, confusion, gait disturbances and loss of speech abilities in addition to hyperornithinemia, hyperammonemia and homocitrullinuria. One hundred Turkish control chromosomes did not possess this variant. The functional effect of the novel mutation was assessed by both complementation of the yeast ORT1 null mutant and transport assays. Our study demonstrates that the A15V mutation dramatically interferes with the transport properties of ORC1 since it was shown to inhibit ornithine transport nearly completely. (C) 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/)

Extracellular matrix protein 1 gene rs3737240 single nucleotide polymorphism is associated with ulcerative colitis in Turkish patients

Background/Aims: Ulcerative colitis (UC) and Crohn's disease are chronic inflammatory diseases. Genetic, immunologic, and microbial factors play an important role in their pathogenesis. Extracellular matrix protein 1 (ECM1), a gene related to mucosal barrier function, has been shown to be associated with UC. This study aims to determine the relationship between ECM1 gene rs3737240 single nucleotide polymorphism (SNP) and UC in a group of Turkish patients