scholarly journals Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Epilepsia ◽  
2021 ◽  
Author(s):  
Remi Stevelink ◽  
Jurjen J. Luykx ◽  
Bochao D. Lin ◽  
Costin Leu ◽  
Dennis Lal ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Generalized Epilepsy ◽  
Shared Genetic

Genetic and Developmental Perspective of Language Abnormality in Autism and Schizophrenia

2015 ◽  
Vol 22 (2) ◽  
pp. 119-131 ◽  
Author(s):  
Haoran George Wang ◽  
Joseph Joel Jeffries ◽  
Tianren Frank Wang
Keyword(s):  
Genetic Basis ◽  
Functional Genes ◽  
Human Beings ◽  
Traditional Beliefs ◽  
Developmentally Regulated ◽  
Language Problems ◽  
Unified View ◽  
Basic Concepts ◽  
Disorganized Speech ◽  
Shared Genetic

Language and communication through it are two of the defining features of normally developed human beings. However, both these functions are often impaired in autism and schizophrenia. In the former disorder, the problem usually emerges in early childhood (~2 years old) and typically includes a lack of communication. In the latter condition, the language problems usually occur in adolescence and adulthood and presents as disorganized speech. What are the fundamental mechanisms underlying these two disorders? Is there a shared genetic basis? Are the traditional beliefs about them true? Are there any common strategies for their prevention and management? To answer these questions, we searched PubMed by using autism, schizophrenia, gene, and language abnormality as keywords, and we reconsidered the basic concepts about these two diseases or syndromes. We found many functional genes, for example, FOXP2, COMT, GABRB3, and DISC1, are actually implicated in both of them. After observing the symptoms, genetic correlates, and temporal progression of these two disorders as well as their relationships more carefully, we now infer that the occurrence of these two diseases is likely developmentally regulated via interaction between the genome and the environment. Furthermore, we propose a unified view of autism and schizophrenia: a single age-dependently occurred disease that is newly named as Systemic Integral Disorder: if occurring in children before age 2, it is called autism; if in adolescence or a later age, it is called schizophrenia.

The Shared Genetic Basis of Hyperuricemia, Gout, and Kidney Function

2020 ◽  
Vol 40 (6) ◽  
pp. 586-599 ◽  
Author(s):  
Megan P. Leask ◽  
Nicholas A. Sumpter ◽  
Alexa S. Lupi ◽  
Ana I. Vazquez ◽  
Richard J. Reynolds ◽  
...  
Keyword(s):  
Kidney Function ◽  
Genetic Basis ◽  
Shared Genetic

scholarly journals Reassessing GWAS findings for the shared genetic basis of insomnia and restless legs syndrome

SLEEP ◽  
2018 ◽  
Vol 41 (11) ◽  
Author(s):  
Maryam El Gewely ◽  
Mélanie Welman ◽  
Lan Xiong ◽  
Sophie Yin ◽  
Hélène Catoire ◽  
...  
Keyword(s):  
Restless Legs Syndrome ◽  
Genetic Basis ◽  
Restless Legs ◽  
Shared Genetic

scholarly journals Sex-dependent dominance maintains migration supergene in rainbow trout

2018 ◽  
Author(s):  
Devon E. Pearse ◽  
Nicola J. Barson ◽  
Torfinn Nome ◽  
Guangtu Gao ◽  
Matthew A. Campbell ◽  
...  
Keyword(s):  
Rainbow Trout ◽  
Sex Chromosomes ◽  
Sexual Conflict ◽  
Genetic Basis ◽  
Deleterious Mutation ◽  
Deleterious Mutations ◽  
Heteromorphic Sex Chromosomes ◽  
Males And Females ◽  
Shared Genetic ◽  
Environmental Dependence

AbstractTraits with different fitness optima in males and females cause sexual conflict when they have a shared genetic basis. Heteromorphic sex chromosomes can resolve this conflict and protect sexually antagonistic polymorphisms but accumulate deleterious mutations. However, many taxa lack differentiated sex chromosomes, and how sexual conflict is resolved in these species is largely unknown. Here we present a chromosome-anchored genome assembly for rainbow trout (Oncorhynchus mykiss) and characterize a 56 Mb double-inversion supergene that mediates sex-specific migration through sex-dependent dominance, a mechanism that reduces sexual conflict. The double-inversion contains key photosensory, circadian rhythm, adiposity, and sexual differentiation genes and displays frequency clines associated with latitude and temperature, revealing environmental dependence. Our results constitute the first example of sex-dependent dominance across a large autosomal supergene, a novel mechanism for sexual conflict resolution capable of protecting polygenic sexually antagonistic variation while avoiding the homozygous lethality and deleterious mutation load of heteromorphic sex chromosomes.

scholarly journals Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies

2020 ◽  
Vol 116 (9) ◽  
pp. 1600-1619 ◽  
Author(s):  
Ali J Marian ◽  
Babken Asatryan ◽  
Xander H T Wehrens
Keyword(s):  
Molecular Biology ◽  
Cardiac Arrhythmias ◽  
Genetic Basis ◽  
Structural Changes ◽  
Causal Role ◽  
Ion Currents ◽  
Pathogenic Variants ◽  
Life Threatening ◽  
Shared Genetic

Abstract Cardiac arrhythmias are common, often the first, and sometimes the life-threatening manifestations of hereditary cardiomyopathies. Pathogenic variants in several genes known to cause hereditary cardiac arrhythmias have also been identified in the sporadic cases and small families with cardiomyopathies. These findings suggest a shared genetic aetiology of a subset of hereditary cardiomyopathies and cardiac arrhythmias. The concept of a shared genetic aetiology is in accord with the complex and exquisite interplays that exist between the ion currents and cardiac mechanical function. However, neither the causal role of cardiac arrhythmias genes in cardiomyopathies is well established nor the causal role of cardiomyopathy genes in arrhythmias. On the contrary, secondary changes in ion currents, such as post-translational modifications, are common and contributors to the pathogenesis of arrhythmias in cardiomyopathies through altering biophysical and functional properties of the ion channels. Moreover, structural changes, such as cardiac hypertrophy, dilatation, and fibrosis provide a pro-arrhythmic substrate in hereditary cardiomyopathies. Genetic basis and molecular biology of cardiac arrhythmias in hereditary cardiomyopathies are discussed.

Abstract 224: Evidence for a shared genetic basis between breast cancer and mammographic density phenotypes

2018 ◽  
Author(s):  
Hongjie Chen ◽  
Julie Douglas ◽  
William Gordon ◽  
Deborah Thompson ◽  
Fergus Couch ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mammographic Density ◽  
Genetic Basis ◽  
Shared Genetic

scholarly journals Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Ben Hollis ◽  
◽  
Felix R. Day ◽  
Alexander S. Busch ◽  
Deborah J. Thompson ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Genomic Analysis ◽  
Hair Colour ◽  
Male Puberty ◽  
Shared Genetic

scholarly journals Familial clustering of epilepsy and behavioral disorders: Evidence for a shared genetic basis

Epilepsia ◽  
2011 ◽  
Vol 53 (2) ◽  
pp. 301-307 ◽  
Author(s):  
Dale C. Hesdorffer ◽  
Rochelle Caplan ◽  
Anne T. Berg
Keyword(s):  
Behavioral Disorders ◽  
Genetic Basis ◽  
Familial Clustering ◽  
Shared Genetic

scholarly journals Mammographic Breast Density and Breast Cancer: Evidence of a Shared Genetic Basis

2012 ◽  
Vol 72 (6) ◽  
pp. 1478-1484 ◽  
Author(s):  
Jajini S. Varghese ◽  
Deborah J. Thompson ◽  
Kyriaki Michailidou ◽  
Sara Lindström ◽  
Clare Turnbull ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Density ◽  
Genetic Basis ◽  
Mammographic Breast Density ◽  
Shared Genetic

scholarly journals A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

2015 ◽  
Vol 100 (4) ◽  
pp. E646-E654 ◽  
Author(s):  
Jia Zhu ◽  
Ruth E.-Y. Choa ◽  
Michael H. Guo ◽  
Lacey Plummer ◽  
Cassandra Buck ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Hypogonadotropic Hypogonadism ◽  
Delayed Puberty ◽  
Idiopathic Hypogonadotropic Hypogonadism ◽  
Shared Genetic
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