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Bibliografie tematiche / Mitochondriopathies

Letteratura scientifica selezionata sul tema "Mitochondriopathies"

Autore: Grafiati

Pubblicato: 26 novembre 2022

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Articoli di riviste sul tema "Mitochondriopathies":

1

Finsterer, J. "Mitochondriopathies". European Journal of Neurology 11, n. 3 (marzo 2004): 163–86. http://dx.doi.org/10.1046/j.1351-5101.2003.00728.x.

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2

Chinnery, P. F., e P. G. Griffiths. "Optic mitochondriopathies". Neurology 64, n. 6 (21 marzo 2005): 940–41. http://dx.doi.org/10.1212/01.wnl.0000157285.93611.b2.

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3

Swerdlow, Russell H. "The Neurodegenerative Mitochondriopathies". Journal of Alzheimer's Disease 17, n. 4 (23 luglio 2009): 737–51. http://dx.doi.org/10.3233/jad-2009-1095.

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4

Tardieu, M., B. Barret e S. Blanche. "Antiviraux et mitochondriopathies". Archives de Pédiatrie 8 (maggio 2001): 327–28. http://dx.doi.org/10.1016/s0929-693x(01)80062-2.

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5

Ben Chehida, A., E. Ben Arab, S. Khatrouch, M. Zribi, H. Boudabous e M. S. Abdelmoula. "Manifestations endocriniennes dans les mitochondriopathies". Annales d'Endocrinologie 83, n. 5 (ottobre 2022): 301–2. http://dx.doi.org/10.1016/j.ando.2022.07.074.

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6

Griggs, Robert C., e George Karpati. "Muscle Pain, Fatigue, and Mitochondriopathies". New England Journal of Medicine 341, n. 14 (30 settembre 1999): 1077–78. http://dx.doi.org/10.1056/nejm199909303411411.

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7

Ruitenbeek, W., R. Sengers, R. Van Laack, F. Trijbels, J. Bakkeren, A. Janssen e O. Van Diggelen. "150 ANTENATAL DIAGNOSIS OF MITOCHONDRIOPATHIES". Pediatric Research 20, n. 10 (ottobre 1986): 1059. http://dx.doi.org/10.1203/00006450-198610000-00205.

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8

Gomes, Sérgio. "A review of mitochondrial disease in dogs". Companion Animal 26, n. 11 (2 dicembre 2021): 257–64. http://dx.doi.org/10.12968/coan.2021.0018.

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Abstract (sommario):

Mitochondria are maternally inherited cellular organelles located in the cytoplasm of most eukaryotic cells. Mitochondrial diseases are a type of metabolic disorder, involving the respiratory chain under the control of both the mitochondrial DNA and nuclear DNA. In dogs, mitochondriopathies are considered rare, with few clinical syndromes having had their structural, biochemical and genetic basis identified. In this review, the basis for suspecting a mitochondrial disease clinically is summarised, with particular focus on mitochondrial encephalopathies, encephalomyelopathies and neuropathies. Recognisable confirmed mitochondriopathies including spongiform leukoencephalomyelopathy, Alaskan Husky encephalopathy, Leigh-like subacute necrotising encephalopathy and sensory ataxic neuropathy in the Golden Retriever are described in detail, alongside previously reported individual cases of presumptive mitochondriopathies of unknown origin. Genetic mutations reported in the literature are reviewed. A clear classification for mitochondrial diseases in veterinary medicine is lacking, and this review is the first to address this class of diseases specifically in dogs.

9

Liskova, Alena, Marek Samec, Lenka Koklesova, Erik Kudela, Peter Kubatka e Olga Golubnitschaja. "Mitochondriopathies as a Clue to Systemic Disorders—Analytical Tools and Mitigating Measures in Context of Predictive, Preventive, and Personalized (3P) Medicine". International Journal of Molecular Sciences 22, n. 4 (18 febbraio 2021): 2007. http://dx.doi.org/10.3390/ijms22042007.

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Abstract (sommario):

The mitochondrial respiratory chain is the main site of reactive oxygen species (ROS) production in the cell. Although mitochondria possess a powerful antioxidant system, an excess of ROS cannot be completely neutralized and cumulative oxidative damage may lead to decreasing mitochondrial efficiency in energy production, as well as an increasing ROS excess, which is known to cause a critical imbalance in antioxidant/oxidant mechanisms and a “vicious circle” in mitochondrial injury. Due to insufficient energy production, chronic exposure to ROS overproduction consequently leads to the oxidative damage of life-important biomolecules, including nucleic acids, proteins, lipids, and amino acids, among others. Different forms of mitochondrial dysfunction (mitochondriopathies) may affect the brain, heart, peripheral nervous and endocrine systems, eyes, ears, gut, and kidney, among other organs. Consequently, mitochondriopathies have been proposed as an attractive diagnostic target to be investigated in any patient with unexplained progressive multisystem disorder. This review article highlights the pathomechanisms of mitochondriopathies, details advanced analytical tools, and suggests predictive approaches, targeted prevention and personalization of medical services as instrumental for the overall management of mitochondriopathy-related cascading pathologies.

10

Swerdlow, Russell. "Mitochondrial Medicine and the Neurodegenerative Mitochondriopathies". Pharmaceuticals 2, n. 3 (3 dicembre 2009): 150–67. http://dx.doi.org/10.3390/ph2030150.

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Più fonti

Tesi sul tema "Mitochondriopathies":

1

SANGLA, IBAN. "Mitochondriopathies musculaires sans atteinte oculaire". Aix-Marseille 2, 1993. http://www.theses.fr/1993AIX20802.

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2

DI, MARCO JEAN-NOEL. "Le syndrome de kearns-sayre : situation actuelle au sein des mitochondriopathies". Aix-Marseille 2, 1990. http://www.theses.fr/1990AIX20005.

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3

BONNET, HUGUES. "Rhabdomyolyse familiale et mitochondriopathie". Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20209.

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4

Lüsebrink, Jessica. "Taurinmangel und Mitochondrienfunktion". Saarbrücken VDM Verlag Dr. Müller, 2008. http://d-nb.info/988823497/04.

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5

Schülke-Gerstenfeld, Markus. "Klinische, biochemische und molekulargenetische Untersuchungen an Kindern mit Mitochondriopathien". [S.l.] : [s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=964717859.

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6

Henkes, Greta. "Neuropathologie primärer und sekundärer Mitochondriopathien im Rahmen entzündlicher Muskelerkrankungen". Doctoral thesis, Universitätsbibliothek Leipzig, 2011. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-71313.

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Abstract (sommario):

Idiopathische Myositiden stellen die größte Gruppe der erworbenen Myopathien im Erwachsenenalter dar. Die Pathogenese dieser Erkrankungen ist sehr heterogen und nicht in allen Einzelheiten geklärt. Das Auftreten von mitochondrialen Veränderungen und mtDNADeletionen in idiopathischen Myositiden und deren pathophysiologische Bedeutung ist in der Literatur ein kontrovers diskutiertes Thema. Nach der Präsentation des bekannten Wissens über diese Erkrankungen wird in vorliegender Arbeit dieses Thema anhand lichtmikroskopischer Methoden unter Anwendung histologischer Spezialmethoden an Muskelbiopsien von 98 Patienten untersucht. Ziel der Arbeit ist es, mit verschiedenen histologischen Färbemethoden Hinweise für Mitochondrien-Alterationen und feinstrukturelle Charakteristika von primären Mitochondrialen Myopathien in idiopathischen Myositiden zu detektieren. Ein besonderer Schwerpunkt liegt auf der Anwendung einer neuen immunhistochemischen Methode unter Anwendung eines monoklonalen antimitochondrialen Antikörpers. Es wird der Fall eines Mädchens mit muskeldystrophischer Symptomatik dargestellt, dessen Muskelbiopsie im Alter von 7 Jahren die myohistologische Diagnose einer juvenilen Dermatomyositis und Hinweise auf eine mitochondriale Dysfunktion ergab. Die Ergebnisse der immunhistochemischen Methode korrelieren gut mit anderen bekannten mitochondrialen Färbungen, sind sensitiver und stellen möglicherweise eine gute Ergänzung zu den bekannten mitochondrialen Markern und Färbungen dar. Die beobachteten mitochondrialen Dysfunktionen sprechen für die gestörte Mitochondrienfunktion und eine früh im Krankheitsverlauf, am ehesten sekundäre, Beteiligung der Mitochondrien im Krankheitsprozess dieser primär nicht mitochondrialen Erkrankungen

7

Schülke-Gerstenfeld, Markus. "Klinische, biochemische und molekulargenetische Untersuchungen an Kindern mit Mitochondriopathien". Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2002. http://dx.doi.org/10.18452/13805.

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Abstract (sommario):

Mitochondrien haben eine entscheidende Rolle im Zellmetabolismus, da sie den Hauptort der ATP-Produktion darstellen. Störungen des mitochondrialen Metabolismus sind mit einem weiten Spektrum von Erkrankungen assoziiert. Das Gehirn und die Muskulatur sind aufgrund ihres hohen Energiebedarfs dabei oft betroffen (Epilepsie, Ataxie, Myopathie). Diese Arbeit beschreibt die Klonierung von nukleären Genen des Komplexes I der mitochondrialen Atmungskette. Besonderes Augenmerk wird dabei auf die 51 kDa Untereinheit (NDUFV1) gerichtet, da sie mit ihrer Bindungsstelle für NADH2 die Eintrittspforte in den Komplex I darstellt. In dieser Untereinheit werden die ersten Mutationen beschrieben, die bei Kindern zu schwerer Entwicklungsretardierung, Leukenzephalopathie und Muskelhypotonie führen. Im weiteren werden Patienten mit isoliertem Komplex III Mangel molekulargenetisch untersucht und klassifiziert. Bei einem Patienten war ein isolierter Komplex III-Mangel und eine Mutation im mitochondrialen Cytochrom b-Gen mit einer septo-optischen Dysplasie vergesellschaftet. Am Ende beschreibt die Arbeit die Probleme der pränatalen Diagnostik mitochondrialer Erkrankungen und die Besonderheiten der genetischen Beratung betroffener Familien.
Mitochondria have a crucial role in the energy metabolism of the cell, since they constitute the main place for ATP-production. Defects in the mitochondrial metabolism are associated with a wide spectrum of diseases. Due to their high energy demand brain and muscles are regularly affected (epilepsy, ataxia, myopathy). This work describes the cloning of nuclear encoded genes of complex I of the mitochondrial respiratory chain. The main interest is directed towards the 51 kDa subunit (NDUFV1) since, due to its NADH2-binding domain, it constitutes the entry port into complex I. Therein the first mutations are described, which lead to severe developmental delay, leukencephalopathy and muscular hypotonia in infants. Additionally patients with isolated complex III-deficiency are examined molecularly and are classified according to their clinical symptoms. In one patient isolated complex III deficiency and a mutation in the mitochondrial cytochrome b-gene are associated with septo-optic dysplasia. At the end problems with prenatal diagnosis of mitochondrial diseases and the peculiarities of genetic counselling of affected families are discussed.

8

Anheier, Maximilian [Verfasser], e M. [Akademischer Betreuer] Deschauer. "Quantifizierung myohistologischer Mitochondrienveränderungen bei Mitochondriopathien / Maximilian Anheier. Betreuer: M. Deschauer". Halle, Saale : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2011. http://d-nb.info/1025301412/34.

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9

Dolly, Adeline. "Cachexie cancéreuse : composition corporelle, structure et métabolisme du muscle squelettique". Thesis, Tours, 2019. http://www.theses.fr/2019TOUR3808.

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La cachexie cancéreuse est un syndrome multifactoriel caractérisé notamment par une perte progressive du muscle squelettique, qui entraîne une diminution de la qualité de vie, de la réponse aux traitements anticancéreux, et de la survie des patients. De par la complexité physiopathologique de ce syndrome clinique, il n’existe pour le moment aucun traitement curatif.Malgré de récentes découvertes, les mécanismes à l’origine de la fonte musculaire squelettique ne sont pas clairement élucidés. Les résultats des études précliniques et cliniques pointent sur de possibles altérations des métabolismes mitochondrial et lipidique. De plus, si la composition corporelle est affectée par la tumeur, elle l’est aussi par les traitements anti-cancéreux.Au cours de ce travail de thèse, nous nous sommes donnés comme objectifs d’étudier les liens entre la composition corporelle et un traitement par chimiothérapie à base de bévacizumab (étude clinique STIC-Avastin (NCT00489697)) ; ou avec la structure et le métabolisme du muscle squelettique, dans le contexte de la cachexie cancéreuse (protocoles cliniques METERMUCADIG (NCT02573974) et METERMUS-IMC (NCT03027479))
Cancer cachexia is a multifactorial syndrome characterized by progressive loss of skeletal muscle, leading to decreased quality of life, response to cancer treatments, and patient survival. Due to the physio pathological complexity of this clinical syndrome, there is currently no cure to cancer cachexia.Despite recent discoveries, the mechanisms underlying skeletal muscle wasting are not clearly understood. Recent preclinical and clinical studies highlighted possible alterations in mitochondrial and lipid metabolism. Furthermore, body composition could be affected not only by the tumor, but also by anti-cancer treatments.During this PhD, the aims were to study the links between body composition and bevacizumab-based chemotherapy treatment (clinical study STIC-Avastin (NCT00489697)); or with skeletal muscle structure and metabolism, in the context of cancer cachexia (clinical protocols METERMUCADIG (NCT02573974) and METERMUS-IMC (NCT03027479))

10

Broeker, Carsten [Verfasser], e Richard [Akademischer Betreuer] Warth. "Mitochondriopathien als Ursache des renalen Fanconi-Syndroms / Carsten Broeker. Betreuer: Richard Warth". Regensburg : Universitätsbibliothek Regensburg, 2015. http://d-nb.info/1092188088/34.

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Libri sul tema "Mitochondriopathies":

1

Wong, Lee-Jun C. Mitochondrial disorders: Biochemical and molecular analysis. New York: Humana Press, 2012.

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2

Mitochondriopathien. Elsevier, 2016. http://dx.doi.org/10.1016/c2012-0-07448-0.

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3

James, Holt Ian, a cura di. Genetics of mitochondrial diseases. Oxford: Oxford University Press, 2003.

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4

Flint, Beal M., Howell Neil 1946- e Bodis-Wollner Ivan 1937-, a cura di. Mitochondria and free radicals in neurodegenerative diseases. New York: Wiley-Liss, 1997.

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5

Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. Springer, 2011.

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6

Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. Springer, 2011.

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7

Lestienne, Patrick. Mitochondrial Diseases: Models and Methods. A cura di Patrick Lestienne. SPRINGER-VERLAG, 1999.

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Capitoli di libri sul tema "Mitochondriopathies":

1

Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber et al. "Primary Mitochondriopathies". In Encyclopedia of Molecular Mechanisms of Disease, 1721. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6269.

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2

Desnuelle, C., e V. Paquis. "Exercise Intolerance and Mitochondriopathies". In Exercise Intolerance and Muscle Contracture, 67–73. Paris: Springer Paris, 1999. http://dx.doi.org/10.1007/978-2-8178-0855-0_7.

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3

Lagler, Florian B. "Current and Emerging Therapies for Mitochondriopathies". In Handbook of Experimental Pharmacology, 57–65. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/164_2019_264.

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4

Angelini, C., A. Martinuzzi, M. Fanin, M. Rosa, R. Carrozzo e L. Vergani. "Various clinical presentation of mitochondriopathies: clinical and therapeutic considerations". In Molecular Basis of Neurological Disorders and Their Treatment, 255–62. Dordrecht: Springer Netherlands, 1991. http://dx.doi.org/10.1007/978-94-011-3114-8_24.

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5

Leung, George P. H. "Iatrogenic Mitochondriopathies: A Recent Lesson from Nucleoside/Nucleotide Reverse Transcriptase Inhibitors". In Advances in Experimental Medicine and Biology, 347–69. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-2869-1_16.

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6

Deschauer, Marcus, e Stephan Zierz. "Mitochondriopathien". In Klinische Neurologie, 1–8. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-662-44768-0_37-1.

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7

Smeitink, J., e U. Wendel. "Mitochondriopathien". In Pädiatrie, 388–98. Berlin, Heidelberg: Springer Berlin Heidelberg, 2007. http://dx.doi.org/10.1007/978-3-540-76460-1_43.

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8

Smeitink, J., e U. Wendel. "Mitochondriopathien". In Pädiatrie, 381–91. Berlin, Heidelberg: Springer Berlin Heidelberg, 2003. http://dx.doi.org/10.1007/978-3-662-09176-0_43.

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9

Freisinger, P. "Mitochondriopathien". In Angeborene Stoffwechselkrankheiten bei Erwachsenen, 395–405. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-45188-1_44.

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10

Sperl, Wolfgang, e Peter Freisinger. "Mitochondriopathien". In Pädiatrie, 751–65. Berlin, Heidelberg: Springer Berlin Heidelberg, 2020. http://dx.doi.org/10.1007/978-3-662-60300-0_76.

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Atti di convegni sul tema "Mitochondriopathies":

1

Sperl, W. "Mitochondriopathien im Kindes- und Jugendalter". In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685014.

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2

Meissner, P., E. Arslan, V. Van Laak, U. von Arnim, R. Fricke e B. Schmidt. "Langzeitverlauf einer angeborenen Mitochondriopathie über 15 Jahre – Lungenfunktion, Atemmuskelkraft und Polysomnographie". In 60. Kongress der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin e. V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1678124.

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