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Journal of Genetics

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https://www.readbyqxmd.com/read/30027910/shared-mechanisms-among-neurodegenerative-diseases-from-genetic-factors-to-gene-networks
#1
Douglas Arneson, Yong Zhang, Xia Yang, Manikandan Narayanan
Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis are pressing health concerns in modern societies for which effective therapies are still lacking. Recent high-throughput genomic technologies have enabled genome-scale, multidimensional investigations to facilitate a better understanding of the underlying mechanisms and the identification of novel targets. Here we review the molecular insights gained through such studies, and compare the similarities and differences between neurodegenerative diseases revealed by systems genomics and gene network modelling approaches...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027909/neurofibrillary-tangles-mediated-human-neuronal-tauopathies-insights-from-fly-models
#2
Surajit Sarkar
Tauopathies represent a group of neurodegenerative disorder which are characterized by the presence of tau positive specialized argyrophilic and insoluble intraneuronal and glial fibrillar lesions known as neurofibrillary tangles (NFTs). Tau is a neuron specific microtubule binding protein which is required for the integrity and functioning of neuronal cells, and hyperphosphorylation of tau and its subsequent aggregation and paired helical filaments (PHFs) and NFTs has emerged as one of the major pathogenic mechanisms of tauopathies in human and mammalian model systems...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027908/pathways-to-neurodegeneration-lessons-learnt-from-unbiased-genetic-screens-in-drosophila
#3
Neha Singhal, Manish Jaiswal
Neurodegenerative diseases are a complex set of disorders that are known to be caused by environmental as well as genetic factors. In the recent past, mutations in a large number of genes have been identified that are linked to several neurodegenerative diseases. The pathogenic mechanisms in most of these disorders are unknown. Recently, studies of genes that are linked to neurodegeneration in Drosophila , the fruit flies, have contributed significantly to our understanding of mechanisms of neuroprotection and degeneration...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027907/tied-up-does-altering-phosphoinositide-mediated-membrane-trafficking-influence-neurodegenerative-disease-phenotypes
#4
Sravanthi S P Nadiminti, Madhushree Kamak, Sandhya P Koushika
Phosphoinositides are a class of membrane lipids that are found on several intracellular compartments and play diverse roles inside cells, such as vesicle formation, protein trafficking, endocytosis etc. Intracellular distribution and levels of phosphoinositides are regulated by enzymes that generate and breakdown these lipids as well as other proteins that associate with phosphoinositides. These events lead to differing levels of specific phosphoinositides on different intracellular compartments. At these intracellular locations, phosphoinositides and their associated proteins, such as Rab GTPases, dynamin and BAR domain-containing proteins, regulate a variety of membrane trafficking pathways...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027906/parkinson-s-disease-what-the-model-systems-have-taught-us-so-far
#5
Swagata Ghatak, Dorit Trudler, Nima Dolatabadi, Rajesh Ambasudhan
Parkinson's disease (PD) is a debilitating neurodegenerative disorder, for which people above the age of 60 show an increased risk. Although there has been great advancement in understanding the disease-related abnormalities in brain circuitry and development of symptomatic treatments, a cure for PD remains elusive. The discovery of PD associated gene mutations and environmental toxins have yielded animal models of the disease. These models could recapitulate several key aspects of PD, and provide more insights into the disease pathogenesis...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027905/regulation-of-membrane-dynamics-by-parkinson-s-disease-associated-genes
#6
Tsuyoshi Inoshita, Changxu Cui, Nobutaka Hattori, Yuzuru Imai
Parkinson's disease (PD), the second most common neurodegenerative disease after Alzheimer's disease, develops sporadically, and its cause is unknown. However, 5-10% of PD cases are inherited as monogenic diseases, which provides a chance to understand the molecular mechanisms underlying neurodegeneration. Over 20 causative genes have already been identified and are being characterized. These PD-associated genes are broadly classified into two groups: genes involved in mitochondrial functions and genes related to membrane dynamics such as intracellular vesicle transport and the lysosomal pathway...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027904/mitochondrial-dysfunction-in-protein-conformational-disorders
#7
Shlomi Brielle, Daniel Kaganovich
Protein aggregation is a hallmark of many neurodegenerative diseases. In Parkinson's disease protein misfolding of α-synuclein involves conformational changes in the protein structure that often results in self-association and aggregation leading to accumulation of α-synuclein in neuronal cells. The underlying mechanisms by which aggregations can lead to impaired cellular functions are often not understood. Meanwhile, there is growing evidence that links mitochondrial dysfunction to Parkinson's disease. As both mitochondria and protein aggregation of α-synuclein have been shown to play a major role in Parkinson's disease, it seems likely that a converging mechanism exists that links the two pathways...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027903/neurodegenerative-diseases-model-organisms-pathology-and-autophagy
#8
S N Suresh, Vijaya Verma, Shruthi Sateesh, James P Clement, Ravi Manjithaya
A proteostasis view of neurodegeneration (ND) identifies protein aggregation as a leading causative reason for damage seen at the cellular and organ levels. While investigative therapies that aim at dissolving aggregates have failed, and the promises of silencing expression of ND associated pathogenic proteins or the deployment of engineered induced pluripotent stem cells (iPSCs) are still in the horizon, emerging literature suggests degrading aggregates through autophagy-related mechanisms hold the current potential for a possible cure...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027902/models-and-mechanisms-of-repeat-expansion-disorders-a-worm-s-eye-view
#9
Paige Rudich, Todd Lamitina
The inappropriate genetic expansion of various repetitive DNA sequences underlies over 20 distinct inherited diseases. The genetic context of these repeats in exons, introns and untranslated regions has played a major role in thinking about the mechanisms by which various repeat expansions might cause disease. Repeat expansions in exons are thought to give rise to expanded toxic protein repeats (i.e. polyQ). Repeat expansions in introns and UTRs (i.e. FXTAS) are thought to produce aberrant repeat-bearing RNAs that interact with and sequester a wide variety of essential proteins, resulting in cellular toxicity...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027901/huntington-s-disease-the-coming-of-age
#10
Mritunjay Pandey, Usha Rajamma
Huntington's disease (HD) is caused due to an abnormal expansion of polyglutamine repeats in the first exon of huntingtin gene. The mutation in huntingtin causes abnormalities in the functioning of protein, leading to deleterious effects ultimately to the demise of specific neuronal cells.The disease is inherited in an autosomal dominant manner and leads to a plethora of neuropsychiatric behaviour and neuronal cell death mainly in striatal and cortical regions of the brain, eventually leading to death of the individual...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027900/advances-in-the-discovery-of-genetic-risk-factors-for-complex-forms-of-neurodegenerative-disorders-contemporary-approaches-success-challenges-and-prospects
#11
Sumeet Kumar, Navneesh Yadav, Sanjay Pandey, B K Thelma
Neurodegenerative diseases constitute a large proportion of disorders in elderly, majority being sporadic in occurrence with ∼5-10% familial. A strong genetic component underlies the Mendelian forms but nongenetic factors together with genetic vulnerability contributes to the complex sporadic forms. Several gene discoveries in the familial forms have provided novel insights into the pathogenesis of neurodegeneration with implications for treatment. Conversely, findings from genetic dissection of the sporadic forms, despite large genomewide association studies and more recently whole exome and whole genome sequencing, have been limited...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027899/lafora-disease-from-genotype-to-phenotype
#12
Rashmi Parihar, Anupama Rai, Subramaniam Ganesh
The progressive myoclonic epilepsy of Lafora or Lafora disease (LD) is a neurodegenerative disorder characterized by recurrent seizures and cognitive deficits. With typical onset in the late childhood or early adolescence, the patients show progressive worsening of the disease symptoms, leading to death in about 10 years. It is an autosomal recessive disorder caused by the loss-of-function mutations in the EPM2A gene, coding for a protein phosphatase (laforin) or the NHLRC1 gene coding for an E3 ubiquitin ligase (malin)...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30027898/paradigm-for-disease-deconvolution-in-rare-neurodegenerative-disorders-in-indian-population-insights-from-studies-in-cerebellar-ataxias
#13
Renu Kumari, Deepak Kumar, Samir K Brahmachari, Achal K Srivastava, Mohammed Faruq, Mitali Mukerji
Cerebellar ataxias are a group of rare progressive neurodegenerative disorders with an average prevalence ranges from 4.8 to 13.8 in 100,000 individuals. The inherited disorders affect multiple members of the families, or a community that is endogamous or consanguineous. Presence of more than 3000 mutations in different genes with overlapping clinical symptoms, genetic anticipation and pleiotropy, as well as incomplete penetrance and variable expressivity due to modifiers pose challenges in genotype-phenotype correlation...
July 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29967314/assessment-of-genetic-diversity-and-population-genetic-structure-of-carthamus-species-and-iranian-cultivar-collection-using-developed-ssr-markers
#14
N Mokhtari, B E Sayed-Tabatabaei, M Bahar, H Arabnezhad
This experiment was conducted to assess genetic relationships among safflower genotypes from different geographical regions of Iran and other countries using newly developed simple sequence repeat (SSR) markers. By enrichment method, 32 primer pairs were designed of which 18 pairs were able to detect polymorphism in 105 safflower cultivars from Carthamus tinctorius , C. oxyacanthus , C. lanatus , C. glaucus , C. boissieri and C. dentatus . The selected SSR primers amplified a total of 59 alleles with an average of 3...
June 15, 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29967313/identification-and-characterization-of-23-microsatellite-loci-for-chlorostoma-rustica-based-on-rad-seq
#15
Ling Wang, Hong Yu, Qi Li
Chlorostoma rustica is an ecologically and economically important species in China, which plays an important role on the overall function of the coastal systems. Understanding of the genetic structure of C. rustica populations is vital to breeding strategies and conservation programmes. In this study, we isolated and characterized 23 microsatellite loci with high polymorphism using the restriction site-associated DNA sequencing approach. The number of alleles per locus ranged from 6 to 18, and the expected heterozygosities varied from 0...
June 6, 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29932080/sex-biased-transgenerational-effect-of-maternal-stress-on-neurodevelopment-and-cognitive-functions
#16
Piyali Misra, Subramaniam Ganesh
No abstract text is available yet for this article.
June 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29932079/distribution-of-dths3-satellite-dna-across-12-bivalve-species
#17
Eva Šatović, Miroslav Plohl
In this study, characterization of DTHS3 satellite DNA (satDNA) was further expanded within the class Bivalvia. Monomer variants of DTHS3 satDNA were compared in 12 bivalve species belonging to two different subclasses, Heterodonta and Pteriomorphia. This satDNA, whose age is estimated to a minimum of 516 Ma, is contributing to the concept of the dual character of satDNA sequences: their sequence preservation throughout long evolutionary periods and generation of species-specific variants of the same satDNA family...
June 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29932078/an-improved-microsatellite-panel-to-assess-genetic-variability-of-the-italian-smooth-newt-lissotriton-vulgaris-meridionalis
#18
Vincenzo Buono, Giorgia Galliani, Emiliano Mancini, Francesca Davoli, Chiara Mengoni, Nadia Mucci, Leonardo Vignoli
Habitat loss and fragmentation are threatening amphibians by increasing population isolation. However, artificial waterbodies created for livestockmay contrast this phenomenon by providing surrogate habitats for amphibians. Here, we performed a genetic study on an amphibian species, Lissotriton vulgaris meridionalis , in a rural area in central Italy where natural wetlands are disappearing and drinking troughs for cattle watering are widespread. Specifically, we tested a panel of microsatellite markers to identify a suitable tool for addressing conservation genetic issues of this species that is undergoing severe local decline...
June 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29932077/parentage-identification-of-odontobutis-potamophlia-based-on-microsatellite-dna-markers
#19
Peipei Wang, Cheng Zhao, Shuqiao Chen, Shaowu Yin, Qintao Wang, Zecheng Li, Guoqin Zhou
Microsatellite lociwere used for parentage identification of Odontobutis potamophlia in five full-sib families. The combined exclusion probability of the first (E-1P) and the second parent (E-2P) revealed an obvious increase with the increase of number of microsatellite loci. The combined exclusion probability based on allele frequency suggested that at least eight microsatellite loci were needed for the identification of the 150 individuals from five families supported by the genetic distance analysis of individuals of these families...
June 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29932076/aniridia-due-to-a-novel-microdeletion-affecting-pax6-regulatory-enhancers-case-report-and-review-of-the-literature
#20
Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Stavros Malas, Carolina Sismani, George A Tanteles
Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene ( PAX6 ), but some carry deletions involving the 11p13 region, encompassing partly or completely PAX6 or the region downstream. We identified a novel deletion, ~564 kb in size located about 46.5 kb downstream of PAX6 in a family with bilateral aniridia and foveal hypoplasia using array-CGH and multiplex ligation-dependent probe amplification...
June 2018: Journal of Genetics
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