Faculty Opinions recommendation of Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.

2011 ◽  
Author(s):  
Simon Shorvon
Keyword(s):  
Genetic Analysis ◽  
Critical Examination ◽  
Genetic Studies ◽  
Current State

Autoimmunity and Frontotemporal Dementia

2018 ◽  
Vol 15 (7) ◽  
pp. 602-609 ◽  
Author(s):  
Antonella Alberici ◽  
Viviana Cristillo ◽  
Stefano Gazzina ◽  
Alberto Benussi ◽  
Alessandro Padovani ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Language Impairment ◽  
Neurodegenerative Disorder ◽  
Chromosome 9 ◽  
Bibliographic Databases ◽  
Extensive Literature ◽  
Genetic Studies ◽  
Reading Frame ◽  
Current State ◽  
Extensive Evaluation

Background: Frontotemporal Dementia (FTD) is a neurodegenerative disorder which asymmetrically affects the frontotemporal lobe, characterized by behavioural abnormalities, language impairment, and deficits of executive functions. Genetic studies identified mutations causing the disease, namely Microtubule Associated Protein Tau (MAPT), Granulin (GRN) and chromosome 9 open reading frame 72 (C9orf72) mutations, which contributed to elucidate the molecular pathways involved in brain depositions of either Tau or TAR DNA-binding protein 43 (TDP43) inclusions. However, in the majority of sporadic FTD patients, the mechanisms triggering Tau or TDP43 protein deposition are still to be uncovered. Objective: We aimed to present an extensive evaluation of literature data on immune homeostasis in FTD, in order to provide potentially evidence-based approaches for a disease still orphan of any treatment. Methods: A structured search of bibliographic databases from peer-reviewed literature was pursued focusing on autoimmunity in the brain and FTD. Results: One-hundred-fourteen papers were included in this review. The majority of studies (32) were represented by extensive literature revision on immunity, central nervous system (CNS) and autoimmunity; neuroimaging papers (11) in autoimmune diseases were evaluated, and immunomodulatory approaches (25) were revised. Six papers were found specifically related to FTD and autoimmune hypothesis, the other papers referring to current state of art on FTD. Conclusion: Overall this review contribute to expand the knowledge of a possible immune hypothesis in FTD, suggesting therapeutic perspectives in autoimmune related neurodegeneration, to reduce or revert the disease.

scholarly journals The GLC7 type 1 protein phosphatase is required for glucose repression in Saccharomyces cerevisiae.

1994 ◽  
Vol 14 (10) ◽  
pp. 6789-6796 ◽  
Author(s):  
J Tu ◽  
M Carlson
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Protein Kinase ◽  
Genetic Analysis ◽  
Protein Phosphatase ◽  
Glucose Repression ◽  
Regulatory Mechanisms ◽  
Genetic Studies ◽  
Glycogen Accumulation ◽  
Regulatory Response

We cloned the GLC7/DIS2S1 gene by complementation of the cid1-226 mutation, which relieves glucose repression in Saccharomyces cerevisiae. GLC7 encodes the catalytic subunit of type 1 protein phosphatase (PP1). Genetic analysis and sequencing showed that cid1-226 is an allele of GLC7, now designated glc7-T152K, which alters threonine 152 to lysine. We also show that the glc7-1 and glc7-T152K alleles cause distinct phenotypes: glc7-1 causes a severe defect in glycogen accumulation but does not relieve glucose repression, whereas glc7-T152K does not prevent glycogen accumulation. These findings are discussed in light of evidence that interaction with different regulatory or targeting subunits directs the participation of PP1 in diverse cellular regulatory mechanisms. Finally, genetic studies suggest that PP1 functions antagonistically to the SNF1 protein kinase in the regulatory response to glucose.

Genetic analysis of ESCRT function in Drosophila: a tumour model for human Tsg101

2009 ◽  
Vol 37 (1) ◽  
pp. 204-207 ◽  
Author(s):  
Hans-Martin Herz ◽  
Andreas Bergmann
Keyword(s):  
Genetic Analysis ◽  
Protein Sorting ◽  
Susceptibility Gene ◽  
Early Endosome ◽  
Genetic Studies ◽  
Vacuolar Protein Sorting ◽  
Endosomal Sorting ◽  
Tumour Model ◽  
Vacuolar Protein ◽  
Multicellular Organisms

Class E Vps (vacuolar protein sorting) proteins are components of the ESCRTs (endosomal sorting complexes required for transport) which are required for protein sorting at the early endosome. Most of these genes have been identified and genetically characterized in yeast. Recent genetic studies in Drosophila have revealed the phenotypic consequences of loss of vps function in multicellular organisms. In the present paper, we review these studies and discuss a mechanism which may explain how loss of the human Tsg101 (tumour susceptibility gene 101), a vps23 orthologue, causes tumours.

scholarly journals Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts

2020 ◽  
pp. 59-60
Author(s):  
А.Е. Яковлева ◽  
Д.А. Петухова ◽  
А.Л. Данилова ◽  
А.Л. Сухомясова ◽  
Н.Р. Максимова
Keyword(s):  
Genetic Analysis ◽  
Clinical Diagnosis ◽  
Sanger Sequencing ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Studies ◽  
Rare Mutation ◽  
Parallel Sequencing ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses

В статье представлены результаты молекулярно-генетических исследованиий больных с множественной экзостозной хондродисплазией (МЭХД), причиной которой явилась редкая мутация в гене EXT2. Исследованы 65 больных с МЭХД и их родственников из 30 неродственных семей. Для молекулярно-генетического анализа было использовано массовое параллельное секвенирование и прямое секвенирование по Сэнгеру. У 16 больных из 4 семей с клиническим диагнозом МЭХД была выявлена редкая нонсенс-мутация c.751С>T в экзоне 5 гена EXT2 в гетерозиготном состоянии. Here we present molecular genetic studies of Yakut patients with hereditary multiple exostoses (HME), which caused by a rare mutation in the EXT2 gene. A total of 65 patients with clinical diagnosis of HME and their relatives from 30 unrelated families were examined. For molecular genetic analysis, massive parallel sequencing (MPS) and direct Sanger sequencing were used. In 16 patients from 4 families with a clinical diagnosis of HME, a rare heterozygous nonsense mutation c.751C> T was detected in exon 5 of the EXT2.

scholarly journals Development of microsatellite markers for the house cricket, Acheta domesticus (Orthoptera: Gryllidae)

2020 ◽  
Vol 21 (9) ◽  
Author(s):  
Yash Munnalal Gupta ◽  
SUPATCHAREE TANASARNPAIBOON ◽  
KITTISAK BUDDHACHAT ◽  
SURIN PEYACHOKNAGUL ◽  
PHATTHARAPORN INTHIM ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Genetic Analysis ◽  
Microsatellite Markers ◽  
Population Genetic ◽  
Acheta Domesticus ◽  
House Cricket ◽  
Population Genetic Analysis ◽  
Closely Related Species ◽  
Genetic Studies ◽  
Future Population

Abstract. Gupta YM, Tanasarnpaiboon S, Buddhachat K, Peyachoknagul S, Inthim P, Homchan S. 2020. Development of microsatellite markers for the house cricket, Acheta domesticus (Orthoptera: Gryllidae). Biodiversitas 21: 4094-4099. The house cricket, Acheta domesticus, is one of the species of crickets commonly found in Thailand. Insect breeders in Thailand prefer to breed house cricket as food due to its better taste and popularity among local people. Moreover, largescale breeding industries also breed house cricket to produce cricket-based edible products. Insect breeding industry is growing rapidly and requires primary precaution for sustainable production. To facilitate breeding system to maintain genetic variation in the captive population, we have sequenced the whole genome of A. domesticus to search for simple sequence repeats (SSRs) in order to develop polymorphic microsatellite markers for preliminary population genetic analysis. A total of 112,157 SSRs with primer pairs were identified in our analysis.  Of these, 91 were randomly selected to check for amplification of microsatellite polymorphisms. From these, nine microsatellites were used to check genetic variation in forty-five individuals of A. domesticus from the Phitsanulok population (Thailand).  These microsatellite markers also showed cross-amplification with other three species of edible crickets, specifically Gryllus bimaculatus, Gryllus testaceus, and Brachytrupes portentosus. The microsatellite markers presented herein will facilitate future population genetic analysis of A. domesticus populations. Moreover, the transferability of these makers would also enable researchers to conduct genetic studies for other closely related species.

scholarly journals Targeting Hepatic Glycerolipid Synthesis and Turnover to Treat Fatty Liver Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-14 ◽  
Author(s):  
George G. Schweitzer ◽  
Brian N. Finck
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Hepatic Steatosis ◽  
Fatty Liver Disease ◽  
Metabolic Diseases ◽  
Hepatic Lipid Metabolism ◽  
Genetic Studies ◽  
Nonalcoholic Fatty Liver ◽  
Current State ◽  
Developed World

Nonalcoholic fatty liver disease (NAFLD) encompasses a spectrum of metabolic abnormalities ranging from simple hepatic steatosis (accumulation of neutral lipid) to development of steatotic lesions, steatohepatitis, and cirrhosis. NAFLD is extremely prevalent in obese individuals and with the epidemic of obesity; nonalcoholic steatohepatitis (NASH) has become the most common cause of liver disease in the developed world. NASH is rapidly emerging as a prominent cause of liver failure and transplantation. Moreover, hepatic steatosis is tightly linked to risk of developing insulin resistance, diabetes, and cardiovascular disease. Abnormalities in hepatic lipid metabolism are part and parcel of the development of NAFLD and human genetic studies and work conducted in experimentally tractable systems have identified a number of enzymes involved in fat synthesis and degradation that are linked to NAFLD susceptibility as well as progression to NASH. The goal of this review is to summarize the current state of our knowledge on these pathways and focus on how they contribute to etiology of NAFLD and related metabolic diseases.

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