Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes.
RéversibilitéGestion des complications
Facteurs de risque
5
#1
Quels sont les facteurs de risque pour les anomalies des motifs EF Hands ?
Les facteurs incluent des prédispositions génétiques et des expositions environnementales.
Facteurs de risquePrédispositions génétiques
#2
L'âge influence-t-il les motifs EF Hands ?
Oui, le vieillissement peut affecter la fonction des motifs EF Hands et la signalisation calcique.
ÂgeVieillissement
#3
Le mode de vie joue-t-il un rôle dans les risques ?
Un mode de vie sédentaire et une mauvaise alimentation augmentent les risques.
Mode de vieAlimentation
#4
Les antécédents familiaux sont-ils un facteur de risque ?
Oui, des antécédents familiaux de maladies génétiques peuvent augmenter le risque.
Antécédents familiauxMaladies génétiques
#5
Les infections peuvent-elles affecter les motifs EF Hands ?
Certaines infections peuvent perturber la signalisation calcique, affectant ces motifs.
InfectionsSignalisation calcique
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"position": 2,
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"position": 6,
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"name": "Les motifs EF Hands sont-ils liés à des maladies ?",
"position": 7,
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"name": "Comment les motifs EF Hands affectent-ils la signalisation cellulaire ?",
"position": 8,
"acceptedAnswer": {
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"text": "Ils régulent la signalisation calcique, influençant divers processus cellulaires."
}
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"@type": "Question",
"name": "Y a-t-il des signes cliniques de dysfonction des motifs EF Hands ?",
"position": 9,
"acceptedAnswer": {
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}
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"@type": "Question",
"name": "Les motifs EF Hands influencent-ils le métabolisme ?",
"position": 10,
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"name": "Peut-on prévenir les anomalies des motifs EF Hands ?",
"position": 11,
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}
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"name": "Y a-t-il des facteurs environnementaux à considérer ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à des toxines peut affecter la fonction des motifs EF Hands."
}
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"@type": "Question",
"name": "Comment le stress influence-t-il les motifs EF Hands ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le stress peut perturber la signalisation calcique, affectant indirectement ces motifs."
}
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"@type": "Question",
"name": "L'exercice physique a-t-il un impact sur ces motifs ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'exercice régule la signalisation calcique, ce qui peut soutenir la fonction des motifs."
}
},
{
"@type": "Question",
"name": "Les suppléments de calcium sont-ils bénéfiques ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des suppléments peuvent aider à maintenir un bon équilibre calcique, soutenant la fonction."
}
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"name": "Quels traitements ciblent les motifs EF Hands ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de traitements spécifiques pour les motifs EF Hands."
}
},
{
"@type": "Question",
"name": "Peut-on modifier les motifs EF Hands par thérapie génique ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique pourrait potentiellement corriger des mutations affectant ces motifs."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils influencer les motifs EF Hands ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments modulent la signalisation calcique, indirectement affectant ces motifs."
}
},
{
"@type": "Question",
"name": "Y a-t-il des approches expérimentales pour traiter les anomalies ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des recherches sont en cours sur des peptides et des inhibiteurs ciblant les motifs EF Hands."
}
},
{
"@type": "Question",
"name": "Comment la nutrition peut-elle influencer les motifs EF Hands ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une nutrition adéquate en calcium et en magnésium peut soutenir leur fonction."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des motifs EF Hands défectueux ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications peuvent inclure des troubles neurologiques et musculaires."
}
},
{
"@type": "Question",
"name": "Les motifs EF Hands sont-ils liés à des cancers ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des études suggèrent un lien potentiel entre des anomalies et certains types de cancer."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent entraîner des limitations fonctionnelles et des douleurs chroniques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de maladies cardiovasculaires ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des dysfonctionnements calciques peuvent contribuer à des maladies cardiovasculaires."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
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"name": "Quels sont les facteurs de risque pour les anomalies des motifs EF Hands ?",
"position": 26,
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"@type": "Answer",
"text": "Les facteurs incluent des prédispositions génétiques et des expositions environnementales."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il les motifs EF Hands ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le vieillissement peut affecter la fonction des motifs EF Hands et la signalisation calcique."
}
},
{
"@type": "Question",
"name": "Le mode de vie joue-t-il un rôle dans les risques ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sédentaire et une mauvaise alimentation augmentent les risques."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux sont-ils un facteur de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de maladies génétiques peuvent augmenter le risque."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles affecter les motifs EF Hands ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
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}
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RG Neuroplasticity, Leibniz Institute for Neurobiology, Magdeburg, Germany.
Leibniz Group 'Dendritic Organelles and Synaptic Function', University Medical Center Hamburg-Eppendorf, Center for Molecular Neurobiology, ZMNH, Hamburg, Germany.
Institute for Biological Instrumentation of the Russian Academy of Sciences, Federal Research Center Pushchino Scientific Center for Biological Research of the Russian Academy of Sciences, 142290 Pushchino, Russia. epermyak@yandex.ru.
Department of Biomedical Engineering, Pushchino State Institute of Natural Sciences, 142290 Pushchino, Russia. epermyak@yandex.ru.
Missense mutations in valosin-containing protein (VCP) can lead to a multisystem proteinopathy 1 (MSP1) with any combination of limb-girdle distribution inclusion body myopathy (IBM) (present in about...
This review highlights novel therapeutic approaches in VCP-MSP in in-vitro and in-vivo models. Furthermore, we also discuss therapies targeting mitochondrial dysfunction, autophagy, TDP-43 pathways, a...
Being a rare disease, it is challenging to perform large-scale randomized control trials (RCTs) in VCP-MSP. However, it is important to recognize potential therapeutic targets, and assess their safety...
Variants in the valosin-containing protein (VCP) gene were identified as one of the causes for inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (FTD). Prev...
The patient was a 62-year-old man, who developed atypical depression at the age of 37 years. Subsequently, he presented with self-centered behavior at the age of 45 years. The self-centered behavior i...
p.Asp395Gly VCP was identified in a patient with likely sporadic FTD without concomitant muscle and bone disease. The CSF analysis suggested that our patient may have FTD due to NFT accumulation simil...
Mutations in the gene encoding valosin-containing protein (VCP) are related to myriad medical conditions, including familial amyotrophic lateral sclerosis, inclusion body myopathy, and frontotemporal ...
We report a 53-year-old PD patient with VCP mutation who later developed motor complications, thus receiving subthalamic nucleus deep brain stimulation (DBS) at the age of 56 years. However, myopathy ...
With the phenotype variability of VCP, DBS should be carefully evaluated, considering the possible unfavorable long-term outcomes due to other symptoms of this mutation....
Cellular responses to stress generally lead to the activation of the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Several lines of study support that ERAD may be playing a prov...
Mutations in the valosin-containing protein (VCP) gene cause autosomal dominant multisystem proteinopathy 1 (MSP1), characterized by a variable combination of inclusion body myopathy (IBM), Paget's di...
We described the clinical, molecular, and imaging data of the studied family. We also conducted a systematic literature search with the aim of comparing our findings with previously reported VCP-relat...
A novel heterozygous VCP missense mutation (c 0.473 T > C/p.Met158Thr) was found in all the affected family members. The proband is a 69-year-old man affected by progressive muscle weakness since the ...
This study broadened our clinical, genetic, and imaging knowledge of VCP-related disorders....
Misfolded proteins are eliminated by a process known as endoplasmic reticulum-associated protein degradation (ERAD). ERAD has an impact on a variety of illnesses, such as diabetes, cystic fibrosis, ca...
In this work, MIA PaCa-2 and PANC-1 human cell lines were examined. Immunocytochemistry and immunofluorescence were performed to detect the cellular localization and presence of p97/VCP and SVIP in pa...
In the nucleus and cytoplasm of MIA PaCa-2 and PANC-1 cells, p97/VCP and SVIP immunoexpressions were seen. The decrease in protein expressions of p97/VCPsi and SVIPsi was significant in pancreatic cel...
Overall, the findings show the differential expression and function of p97/VCP and SVIP in pancreas ductal adenocarcinoma cells. The potential of the pancreatic cancer cells to migrate and invade alte...
The endoplasmic reticulum (ER) is the major site of protein synthesis and folding in the cell. ER-associated degradation (ERAD) and unfolded protein response (UPR) are the main mechanisms of ER-mediat...
Protein expression levels of valosin-containing protein (VCP), a chief element of ERAD, were measured in peripheral blood samples from in 483 pediatric AML patients using reverse phase protein array m...
Low-VCP expression was significantly associated with favorable 5-year overall survival (OS) rate compared to middle-high-VCP expression (81% versus 63%, p < 0.001), independent of additional bortezomi...
Our findings suggest the potential of the protein VCP as biomarker in prognostication prediction in pediatric AML....
Valosin-containing protein (VCP), also known as p97, plays a crucial role in various cellular processes, including protein degradation, endoplasmic reticulum-associated degradation, and cell cycle reg...