Titre : Protéines mitochondriales

Protéines mitochondriales : Questions médicales fréquentes

Termes MeSH sélectionnés :

Genetic Testing
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maladies mitochondriales augmentent-elles le risque de cancer ?\nLes complications cardiovasculaires sont-elles fréquentes ?", "url": "https://questionsmedicales.fr/mesh/D024101?mesh_terms=Genetic+Testing&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Protéines mitochondriales", "description": "Quels sont les facteurs de risque pour les maladies mitochondriales ?\nL'âge est-il un facteur de risque ?\nLes facteurs environnementaux influencent-ils les maladies mitochondriales ?\nLe stress oxydatif est-il un facteur de risque ?\nLes habitudes alimentaires peuvent-elles influencer le risque ?", "url": "https://questionsmedicales.fr/mesh/D024101?mesh_terms=Genetic+Testing&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une dysfonction mitochondriale ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un diagnostic peut inclure des tests génétiques, des biopsies musculaires et des analyses biochimiques." } }, { "@type": "Question", "name": "Quels tests sanguins sont utilisés pour évaluer les protéines mitochondriales ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests de lactate, pyruvate et des enzymes spécifiques peuvent être effectués." } }, { "@type": "Question", "name": "Quels symptômes indiquent une maladie mitochondriale ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Fatigue, faiblesse musculaire, troubles neurologiques et problèmes cardiaques peuvent indiquer une maladie." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils fiables pour les maladies mitochondriales ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent identifier des mutations spécifiques liées aux maladies mitochondriales." } }, { "@type": "Question", "name": "Quel rôle joue l'imagerie dans le diagnostic mitochondrial ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'imagerie par résonance magnétique (IRM) peut aider à visualiser des anomalies cérébrales." } }, { "@type": "Question", "name": "Quels sont les symptômes courants des maladies mitochondriales ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fatigue, douleurs musculaires, troubles de la vision et épilepsie." } }, { "@type": "Question", "name": "Les troubles cognitifs sont-ils liés aux protéines mitochondriales ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles cognitifs peuvent survenir en raison de dysfonctionnements mitochondriaux." } }, { "@type": "Question", "name": "Comment la myopathie mitochondriale se manifeste-t-elle ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Elle se manifeste par une faiblesse musculaire, des crampes et une intolérance à l'exercice." } }, { "@type": "Question", "name": "Les troubles cardiaques sont-ils fréquents dans les maladies mitochondriales ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des cardiomyopathies peuvent se développer en raison de dysfonctionnements mitochondriaux." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon l'âge d'apparition ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent varier considérablement selon l'âge d'apparition de la maladie." } }, { "@type": "Question", "name": "Peut-on prévenir les maladies mitochondriales ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Certaines maladies génétiques ne peuvent pas être prévenues, mais un mode de vie sain aide." } }, { "@type": "Question", "name": "L'exercice physique peut-il réduire les risques ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exercice régulier peut améliorer la santé mitochondriale et réduire les risques." } }, { "@type": "Question", "name": "Les antioxydants jouent-ils un rôle préventif ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les antioxydants peuvent protéger les mitochondries des dommages oxydatifs." } }, { "@type": "Question", "name": "Une alimentation équilibrée est-elle importante ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une alimentation riche en nutriments soutient la santé mitochondriale." } }, { "@type": "Question", "name": "Les dépistages précoces sont-ils recommandés ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage précoce peut aider à identifier les risques et à intervenir rapidement." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour les maladies mitochondriales ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent des suppléments, des thérapies symptomatiques et des approches nutritionnelles." } }, { "@type": "Question", "name": "Les coenzymes Q10 sont-elles bénéfiques ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le coenzyme Q10 peut améliorer la fonction mitochondriale et réduire les symptômes." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option pour ces maladies ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais elle pourrait offrir des solutions futures." } }, { "@type": "Question", "name": "Les régimes alimentaires peuvent-ils aider ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des régimes spécifiques peuvent soutenir la fonction mitochondriale et améliorer les symptômes." } }, { "@type": "Question", "name": "Les traitements varient-ils selon le type de maladie mitochondriale ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements doivent être adaptés au type spécifique de maladie mitochondriale." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec les maladies mitochondriales ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles neurologiques, cardiaques et endocriniens." } }, { "@type": "Question", "name": "Les maladies mitochondriales peuvent-elles affecter la fertilité ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines maladies mitochondriales peuvent entraîner des problèmes de fertilité." } }, { "@type": "Question", "name": "Les complications peuvent-elles être gérées ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées avec des traitements symptomatiques appropriés." } }, { "@type": "Question", "name": "Les maladies mitochondriales augmentent-elles le risque de cancer ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Certaines études suggèrent un lien entre dysfonction mitochondriale et risque accru de cancer." } }, { "@type": "Question", "name": "Les complications cardiovasculaires sont-elles fréquentes ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les maladies mitochondriales peuvent entraîner des cardiomyopathies et d'autres complications." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour les maladies mitochondriales ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des expositions environnementales." } }, { "@type": "Question", "name": "L'âge est-il un facteur de risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines maladies mitochondriales se manifestent plus fréquemment avec l'âge." } }, { "@type": "Question", "name": "Les facteurs environnementaux influencent-ils les maladies mitochondriales ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à des toxines peut augmenter le risque de dysfonction mitochondriale." } }, { "@type": "Question", "name": "Le stress oxydatif est-il un facteur de risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le stress oxydatif peut endommager les mitochondries et contribuer à des maladies." } }, { "@type": "Question", "name": "Les habitudes alimentaires peuvent-elles influencer le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une alimentation pauvre en nutriments peut augmenter le risque de dysfonction mitochondriale." } } ] } ] }

Sous-catégories

25 au total
└─

Aldehyde dehydrogenase, mitochondrial

Aldehyde Dehydrogenase, Mitochondrial D000071396 - D12.776.575.093
└─

Mitochondrial creatine kinase

Creatine Kinase, Mitochondrial Form D052281 - D12.776.575.186
└─

DNA Polymerase gamma

DNA Polymerase gamma D000074002 - D12.776.575.280
└─

Ferrochelatase

Ferrochelatase D005294 - D12.776.575.562
└─

Protéines de transport de la membrane mitochondriale

Mitochondrial Membrane Transport Proteins D033681 - D12.776.575.750
└─

Protéine trifonctionnelle mitochondriale

Mitochondrial Trifunctional Protein D063991 - D12.776.575.765
└─

Nucleoside diphosphate kinase D

Nucleoside Diphosphate Kinase D D061107 - D12.776.575.781
└─

Peroxiredoxin III

Peroxiredoxin III D061105 - D12.776.575.812
└─

Prohibitines

Prohibitins D000091402 - D12.776.575.844
└─

Sirtuine-3

Sirtuin 3 D056566 - D12.776.575.875
└─└─

Mitochondrial ADP, ATP Translocases

Mitochondrial ADP, ATP Translocases D000226 - D12.776.575.750.500
└─└─

Pore de transition de perméabilité mitochondriale

Mitochondrial Permeability Transition Pore D000083162 - D12.776.575.750.563
└─└─

Protéines du complexe d'import des protéines précurseurs mitochondriales

Mitochondrial Precursor Protein Import Complex Proteins D000090622 - D12.776.575.750.594
└─└─

Mitochondrial Proton-Translocating ATPases

Mitochondrial Proton-Translocating ATPases D025261 - D12.776.575.750.625
└─└─

Protéines de découplage mitochondrial

Mitochondrial Uncoupling Proteins D000071245 - D12.776.575.750.688
└─└─

Canal anionique-1 voltage-dépendant

Voltage-Dependent Anion Channel 1 D050995 - D12.776.575.750.750
└─└─

Canal anionique-2 voltage-dépendant

Voltage-Dependent Anion Channel 2 D050996 - D12.776.575.750.875
└─└─

Sous-unité alpha de la protéine trifonctionnelle mitochondriale

Mitochondrial Trifunctional Protein, alpha Subunit D063992 - D12.776.575.765.200
└─└─

Sous-unité bêta de la protéine trifonctionnelle mitochondriale

Mitochondrial Trifunctional Protein, beta Subunit D063993 - D12.776.575.765.500
└─└─└─

Translocateur-1 de nucléotides adényliques

Adenine Nucleotide Translocator 1 D033741 - D12.776.575.750.500.100
└─└─└─

Translocateur-2 de nucléotides adényliques

Adenine Nucleotide Translocator 2 D033742 - D12.776.575.750.500.200
└─└─└─

Translocateur-3 de nucléotides adényliques

Adenine Nucleotide Translocator 3 D033781 - D12.776.575.750.500.300
└─└─└─

Protéine-1 de découplage

Uncoupling Protein 1 D000071256 - D12.776.575.750.688.500
└─└─└─

Protéine-2 de découplage

Uncoupling Protein 2 D000071246 - D12.776.575.750.688.750
└─└─└─

Protéine-3 de découplage

Uncoupling Protein 3 D000071247 - D12.776.575.750.688.875

Sources (10000 au total)

Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease.

To date, almost 600 genes have been associated with ocular genetic diseases. As these discoveries are made, clinical genetic testing continues to grow and become a more common element in the diagnosti... We distributed a REDCap survey to parents of pediatric patients in the Indiana University Ocular Genetics Clinic and through the Foundation Fighting Blindness MyRetinaTracker database to examine facto... Parents were primarily motivated by the opportunity to learn about their child's prognosis, formal diagnosis, and possible treatment options. Parents were most interested in discussing prognosis, adap... Parents seem to be generally satisfied by the care from their ocular genetics team. However, families' desires are not being fully met, especially with information about prognosis and support resource...

Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.

Genetic testing has proven utility in identifying and diagnosing individuals with FH. Here we outline the current landscape of genetic testing for FH, recommendations for testing practices and the eff... Alternatives to the traditional genetic testing and counseling paradigm for FH are being explored including expanding screening programs, testing in primary care and/or cardiology clinics, leveraging ...

Preimplantation genetic testing for familial amyloid polyneuropathy.

Embryo selection in Familial amyloid polyneuropathy eradicates the disease, but the widespread application of preimplantation genetic testing (PGT) for this monogenic disease still requires greater po... Familial amyloid polyneuropathy is a fatal, chronic, hereditary autosomal dominant neurodegenerative disorder caused by a single nucleotide mutation in the transthyretin gene. The disease courses with... The application of PGT would prevent the disease, the birth of children with this devastating disease and the enormous health costs associated. For PGT to become the first reproductive option for pati...

A Case for Genetic Testing in Isolated Tympanic Paragangliomas.

The aim of this study is to describe two clinical cases, which we believe highlight the need to consider routine genetic testing of all patients with new diagnosis of a tympanic paraganglioma (PGL).... Two patients seen in the ENT clinic at a tertiary center with a diagnosis of isolated tympanic PGL, without family history.... Since 2016, all patients with newly diagnosed isolated tympanic PGL (glomus tympanicum) are offered review by the clinical genetic team and genetic testing of a panel of paraganglioma/phaeochromocytom... We describe the results of genetic testing, the clinical course and discuss the ongoing implications for management.... Both cases were identified to have a pathogenic variant in the SDHB gene after initial surgery. The clinical course for both cases was complicated by disease recurrence, as well as metastatic and secr... These two cases reinforce the importance of offering genetic testing for all cases of isolated tympanic PGL. The discovery of a significant underlying genetic variant may affect management decisions a...

Genetics professionals are key to the integration of genetic testing within the practice of frontline clinicians.

Genetic tests have become widely available. We sought to understand the use of genetic tests in the practice of frontline clinicians within the United States Department of Veterans Affairs (VA).... We administered a web-based survey to clinicians at 20 VA facilities. Physicians, nurse practitioners, physician assistants, and pharmacists were eligible. We excluded genetics providers and clinician... The response rate was 11.3% (1207/10,680) and of these, 909 respondents were eligible. Only 20.8% of the respondents reported feeling prepared to use genetic tests and 13.0% of the respondents were cu... Most VA clinicians don't feel prepared to use genetic tests. Those with genetic testing experience are more likely to consult genetics providers. The demand for genetics providers should increase as f...