Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders

Neurodevelopmental disorders group conditions in which the growth and development of the brain is altered. This can damage both the neurocognitive and behavioral spheres such as the development of language, emotions, behavior, self-control, learning and memory, and also motor functions. They include...

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Main Author: José Ignacio Lao Villadóniga
Format: Article
Language:Spanish
Published: Universidad de las Ciencias Médicas de Cienfuegos 2024-07-01
Series:Revista Finlay
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Online Access:https://revfinlay.sld.cu/index.php/finlay/article/view/1410
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author José Ignacio Lao Villadóniga
author_facet José Ignacio Lao Villadóniga
author_sort José Ignacio Lao Villadóniga
collection DOAJ
description Neurodevelopmental disorders group conditions in which the growth and development of the brain is altered. This can damage both the neurocognitive and behavioral spheres such as the development of language, emotions, behavior, self-control, learning and memory, and also motor functions. They include attention deficit and hyperactivity disorders, autism spectrum disorders, communication problems, intellectual development problems, as well as various specific learning disorders and various motor disorders. They begin early in a child's development and can continue throughout life. In each one, a wide heterogeneity is observed in terms of manifestations, evolution and their response to support interventions and treatments. In this article, we consider the impact that the interaction of genetic polymorphisms in several genes, known as epistasis, can have within the main etiopathogenic pathways to be taken into account in these cases and how these interactions affect each “facilitating” genotype. It interacts with the rest of the factors, such as non-genetic ones.
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issn 2221-2434
language Spanish
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publisher Universidad de las Ciencias Médicas de Cienfuegos
record_format Article
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spelling doaj-art-765c5409c56d4071a4a1507830482a0e2025-01-30T21:22:03ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342024-07-01143301311720Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental DisordersJosé Ignacio Lao Villadóniga0Instituto de Formación Continuada de la Universidad de Barcelona. Sociedad Española de Genética Clínica y Dismorfología. Sociedad Española de Medicina Antienvejecimiento y Longevidad. Director Médico en Genomic Genetics International. Barcelona. España.Neurodevelopmental disorders group conditions in which the growth and development of the brain is altered. This can damage both the neurocognitive and behavioral spheres such as the development of language, emotions, behavior, self-control, learning and memory, and also motor functions. They include attention deficit and hyperactivity disorders, autism spectrum disorders, communication problems, intellectual development problems, as well as various specific learning disorders and various motor disorders. They begin early in a child's development and can continue throughout life. In each one, a wide heterogeneity is observed in terms of manifestations, evolution and their response to support interventions and treatments. In this article, we consider the impact that the interaction of genetic polymorphisms in several genes, known as epistasis, can have within the main etiopathogenic pathways to be taken into account in these cases and how these interactions affect each “facilitating” genotype. It interacts with the rest of the factors, such as non-genetic ones.https://revfinlay.sld.cu/index.php/finlay/article/view/1410trastornos del neurodesarrollotrastorno del espectro autistagenéticagenómicaepistasis genéticapolimorfismo genéticogenes modificadores
spellingShingle José Ignacio Lao Villadóniga
Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders
Revista Finlay
trastornos del neurodesarrollo
trastorno del espectro autista
genética
genómica
epistasis genética
polimorfismo genético
genes modificadores
title Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders
title_full Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders
title_fullStr Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders
title_full_unstemmed Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders
title_short Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders
title_sort epistasis in modifying genes key factor to differentiate clinical subtypes in neurodevelopmental disorders
topic trastornos del neurodesarrollo
trastorno del espectro autista
genética
genómica
epistasis genética
polimorfismo genético
genes modificadores
url https://revfinlay.sld.cu/index.php/finlay/article/view/1410
work_keys_str_mv AT joseignaciolaovilladoniga epistasisinmodifyinggeneskeyfactortodifferentiateclinicalsubtypesinneurodevelopmentaldisorders