questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Transferases
Acyltransferases
Acetyltransferases
N-terminal acetyltransferases
N-terminal acetyltransferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Gene-Environment Interaction
Diagnostic
5
Acétylation
Tests génétiques
Biopsie
Analyse histologique
Protéines
Marqueurs biologiques
Imagerie médicale
Diagnostic
Symptômes
5
Troubles neurologiques
Anomalies métaboliques
Enzymes
Symptômes cliniques
Dermatologie
Éruptions cutanées
Troubles cognitifs
Métabolisme
Prévention
5
Prévention
Diagnostic précoce
Conseils génétiques
Risque héréditaire
Alimentation
Santé métabolique
Dépistage
Antécédents familiaux
Vaccination
Prévention des maladies
Traitements
5
Thérapie enzymatique
Approches diététiques
Suppléments nutritionnels
Métabolisme
Thérapie génique
Recherche
Médicaments
Fonction enzymatique
Traitements symptomatiques
Gestion des symptômes
Complications
5
Complications neurologiques
Complications métaboliques
Réversibilité
Gestion des complications
Maladies associées
Risque accru
Qualité de vie
Impact sur la santé
Soins palliatifs
Confort du patient
Facteurs de risque
5
Facteurs de risque
Mutations génétiques
Facteurs environnementaux
Prédispositions génétiques
Maladies auto-immunes
Dysfonction enzymatique
Sexe
Différences de genre
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"@type": "Question",
"name": "Comment diagnostiquer une déficience en N-terminal acetyltransferases ?",
"position": 1,
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"text": "Des tests génétiques et des analyses protéomiques peuvent identifier des anomalies."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des N-terminal acetyltransferases ?",
"position": 2,
"acceptedAnswer": {
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"text": "Des tests enzymatiques mesurant l'acétylation des substrats spécifiques sont utilisés."
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{
"@type": "Question",
"name": "Les biopsies sont-elles nécessaires pour le diagnostic ?",
"position": 3,
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"position": 4,
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{
"@type": "Question",
"name": "Peut-on utiliser l'imagerie pour le diagnostic ?",
"position": 5,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Quels symptômes sont associés à une déficience en N-terminal acetyltransferases ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes peuvent inclure des troubles neurologiques et des anomalies métaboliques."
}
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme affectée ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, chaque enzyme a des substrats spécifiques, entraînant des symptômes variés."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
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}
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"@type": "Question",
"name": "Les troubles cognitifs sont-ils liés à ces enzymes ?",
"position": 9,
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"@type": "Answer",
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"@type": "Question",
"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Pas toujours, certains symptômes peuvent se développer plus tard dans l'enfance ou l'adolescence."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les déficiences en N-terminal acetyltransferases ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent être utiles pour les familles à risque."
}
},
{
"@type": "Question",
"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut soutenir la santé métabolique, mais ne prévient pas directement."
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{
"@type": "Question",
"name": "Des dépistages réguliers sont-ils conseillés ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des dépistages peuvent être recommandés pour les individus à risque ou avec des antécédents familiaux."
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},
{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas les déficiences enzymatiques, mais protègent contre d'autres maladies."
}
},
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"@type": "Question",
"name": "Quels traitements sont disponibles pour les déficiences en N-terminal acetyltransferases ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements peuvent inclure des thérapies enzymatiques et des approches diététiques."
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{
"@type": "Question",
"name": "Les suppléments nutritionnels peuvent-ils aider ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains suppléments peuvent soutenir le métabolisme et compenser les déficiences."
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"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais elle pourrait offrir des solutions futures."
}
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{
"@type": "Question",
"name": "Les médicaments peuvent-ils améliorer la fonction enzymatique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments expérimentaux visent à améliorer l'activité des enzymes déficientes."
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"@type": "Question",
"name": "Y a-t-il des traitements symptomatiques disponibles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des traitements symptomatiques peuvent aider à gérer les manifestations cliniques."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
"acceptedAnswer": {
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"text": "Des complications neurologiques, métaboliques et immunitaires peuvent se développer."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
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"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
"acceptedAnswer": {
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"text": "Oui, les déficiences peuvent augmenter le risque de maladies métaboliques et neurologiques."
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"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Des soins palliatifs sont-ils nécessaires ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans les cas graves, des soins palliatifs peuvent être nécessaires pour améliorer le confort."
}
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"@type": "Question",
"name": "Quels sont les facteurs de risque pour ces déficiences ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque clés."
}
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"@type": "Question",
"name": "L'âge joue-t-il un rôle dans le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains troubles se manifestent plus fréquemment chez les jeunes enfants."
}
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"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent interagir avec des prédispositions génétiques."
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"@type": "Question",
"name": "Les maladies auto-immunes sont-elles un facteur de risque ?",
"position": 29,
"acceptedAnswer": {
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"text": "Certaines maladies auto-immunes peuvent augmenter le risque de dysfonction enzymatique."
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 03/03/2025
Contenu vérifié selon les dernières recommandations médicales
11 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Bergen, Bergen, Norway.
Department of Biomedicine, University of Bergen, Bergen, Norway.
Department of Surgery, Haukeland University Hospital, Bergen, Norway.
5 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, Philadelphia, PA, United States; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: marmor@upenn.edu.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Department of Biomedicine, University of Bergen, Bergen, Norway. Electronic address: henriette.aksnes@uib.no.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Centre for Organismal Studies, Heidelberg University, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany. Electronic address: irmi.sinning@bzh.uni-heidelberg.de.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Biophysics, Abramson Family Cancer Research Institute, Graduate Group in Biochemistry and Molecular Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
Cyprus Cancer Research Institute, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
VIB-UGent Center for Medical Biotechnology, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
College of Life Sciences, Capital Normal University, Beijing, 100048, China.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biomedicine, University of Bergen, 5020 Bergen, Norway.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
Functional hypothalamic amenorrhea (FHA) is a common cause of amenorrhea and chronic anovulation in adolescent girls and young women, diagnosed after excluding other organic causes. It is commonly ass...
The molecular processes underlying human health and disease are highly complex. Often, genetic and environmental factors contribute to a given disease or phenotype in a non-additive manner, yielding a...
Misclassification bias is a common concern in epidemiologic studies. Despite strong bias on main effects, gene-environment interactions have been shown to be biased towards the null under gene-environ...
We derive equations to quantify the bias of the interaction, and numerically illustrate these results by simulating a case-control study of 1000 cases and 1000 controls. Simulation input parameters in...
We show that, even if gene-environment independence is violated, we can bound possible gene-environment interactions by knowing the strength and direction of the gene-environment dependence ( ) and th...
Even if gene-environment dependence exists, we may still be able to identify gene-environment interactions even when misclassification bias is present....
There is credible evidence that environmental factors influence individual risk and/or severity of autism spectrum disorders (hereafter referred to as autism). While it is likely that environmental ch...
Gene-environment (G-E) interaction analysis plays an important role in studying complex diseases. Extensive methodological research has been conducted on G-E interaction analysis, and the existing met...
Mathematical ability is influenced by genes and environment. This study focused on the effect of DRD2, a candidate gene for working memory, on mathematical ability. The results in child participants r...
Neural tube defects (NTDs) consist of severe structural malformations of the brain and spinal cord and are the second most common structural birth defect in humans, accounting for approximately 2700 a...
The abuse of psychogenic drugs can lead to multiple health-related problems. Genetic and environmental vulnerabilities are factors in the emergence of substance use disorders. Empirical evidence regar...
We reviewed published studies, until March 1, 2022, on substance use for candidate gene-environment interaction. Basic demographics of the included studies, target genes, environmental factors, main f...
Among a total of 44 studies, 38 demonstrated at least one significant interaction effect. About 61.5% of studies on the 5-HTTLPR gene, 100% on the MAOA gene, 42.9% on the DRD2 gene, 50% on the DRD4 ge...
The gene-environment interaction research on substance use behavior is methodologically multidimensional, which causes difficulty in conducting pooled analysis, or stated differently-making it hard to...
In our commentary we ask whether we should ultimately endeavour to find the deep causes of behaviours? Then we discuss two extensions of the proposed framework: (1) Mendelian randomisation and (2) hyp...
Gene-environment (GxE) interactions are an important and sophisticated component in the manifestation of complex phenotypes. Simple univariate tests lack statistical power due to the need for multiple...