Publikationen

Hier finden Sie Publikationen zu Forschungsprojekten, die von der Österreichischen Muskelforschung unterstützt wurden. Ebenso führen wir hier Publikationen anderer Forschungsteams an, die wir für erwähnenswert und interessant halten.

 

Diese Auflistung erhebt nicht den Anspruch auf Vollständigkeit und wird laufend ergänzt. Die Publikationen sind chronologisch aufsteigend angeordnet:

  • Voltage-Gated Ion Channel Dysfunction Precedes Cardiomyopathy Development in the Dystrophic Heart, Research Article in PLOS one

„Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and cardiac arrhythmias. Recent research suggests that … „

Zur Publikation in englischer Sprache: PLOS ONE

  • Genomische Instabilität als Bindeglied zwischen Muskeldystrophien und Sarkom-Entstehung entschlüsselt in: PLOS Genetics, April 2011

Erste Publikation des von der ÖMF geförderten Forschungsprojekts an der MedUni Wien

„MuskelforscherInnen der MedUni Wien unter der Leitung von Prof. Bittner zeigen, dass Gene, die bisher mit Muskeldystrophien assoziiert waren, auch Tumor-Gene sind. Sie schlagen damit erstmals eine Brücke zwischen Muskeldystrophien und Krebserkrankungen und öffnen damit neue Forschungs- und Behandlungswege.“

Zur Publikation in englischer Sprache: PLOS GENETICS

  • Research Highlights Pathology – TWO OF A KIND in: NATURE Reviews | Cancer |Volume 11 June 2011

„All muscular dystrophies are characterized by progressive muscle wasting, despite being a genetically heterogeneous group of inherited disorders. Reginald Bittner and col­leagues now propose that genomic instability (which is more commonly associated with cancer) may be a uni­fying pathomechanism in genetically distinct muscular dystrophies.“

  • Lamina-associated polypeptide (LAP) 2α is a chromatinassociated protein that binds A-type lamins1,2. in: NATURE CELL BIOLOGY volume 10 | number 11 | NOV. 2008

„Lamina-associated polypeptide (LAP) 2α is a chromatinassociated protein that binds A-type lamins1,2. Mutations in both LAP2α and A-type lamins are linked to human diseases called laminopathies3, but the molecular mechanisms arepoorly understood. The A-type lamin–LAP2α complex interacts with and regulates retinoblastoma protein (pRb)4,5, but the significance of this interaction in vivo is unknown. Here we address the function of the A-type lamin–LAP2α complex with the use of LAP2α-deficient mice. We show that LAP2α loss causes relocalization of nucleoplasmic A-type lamins to the nuclear envelope and impairs pRb function. This causes inefficient cell-cycle arrest in dense fibroblast cultures and hyperproliferation of epidermal and erythroid progenitor cells in vivo, leading to tissue hyperplasia. Our results support a disease-relevant model6 in which LAP2α defines A-type lamin localization in the nucleoplasm, which in turn affects pRb-mediated regulation of progenitor cell proliferation and differentiation in highly regenerative tissues.“

  • Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration in: EMBO reports VOL 8 | NO 7 | 2007

„Here, we show that the murine neurodegenerative disease mdf (autosomal recessive mouse mutant ‘muscle deficient’) is caused by a loss-of-function mutation in Scyl1, disrupting the expression of N-terminal kinase-like protein, an evolutionarily conserved putative component of the nucleocytoplasmic transport machinery. Scyl1 is prominently expressed in neurons, and enriched at central nervous system synapses and neuromuscular junctions. We show that the pathology of mdf comprises cerebellar atrophy. Purkinje cell loss and optic nerve atrophy, and therefore defines a new animal model for neurodegenerative diseases with cerebellar involvement in humans.“

  • The Expanding Mutational Spectrum of MERRF Substitution G8361A in the Mitochondrial tRNALys Gene in: Annals of Neurology Vol 54 No 6 December 2003

„In a case of childhood-onset myoclonus epilepsy with “ragged-red fibers” (MERRF), a hitherto unreported mutation within the mitochondrial tRNALys gene was identified as the cause of the disease.“

  • Positive Malignant Hyperthermia Susceptibility In Vitro Test in aPatient with Mitochondrial Myopathy and Myoadenylate Deaminase Deficiency in: Anesthesiology 2002; 97:1635-7 , Manish Mehrotra, M.D.,* Sandeep Mehrotra, M.S., D.N.B.†

„Malignant hyperthermia (MH) is a life-threatening anesthesia–related complication characterized by a hypermetabolic response of skeletal muscle which can be triggered by anesthetic drugs such as halothane and succinylcholine.1 Although some genes have been identified to be involved in MH (such as the ryanodine receptor gene [RYR1] and the dihydropyridine receptor [DHP] gene) the underlying molecular defect remains unclear in the majority of MH-cases. However, apart from central core disease, which is regularly associated with MH-susceptibility, the association of other neuromuscular diseases with MH has been reported anecdotally.Here we report a 41-yr-old man with a long history of progressive muscle weakness, myalgia, and recurrent myoglobinuria due to two unrelated metabolic defects, i.e., mitochondrial myopathy in combination with myoadenylate deaminase (MAD) deficiency. The patient tested positive for malignant hyperthermia susceptibility (MHS) by the halothane caffeine in vitro contracture testing (IVCT) procedure.“

  • Skeletal, cardiac and tongue muscle pathology, defec-tive retinal transmission, neuronal migration de-fects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle–eye–brain disorders in: Oxford Univers. Press/Human Molecular Genetics 2002 Vol.11

„We have recently shown that a deletion in the Large gene, encoding a putative glycosyltransferase, is the molecular defect underlying the myodystrophy (previously myd; now Largemyd) mouse. Here we show that the muscular dystrophy phenotype is not confined to skeletal muscle, but is also present in the heart and tongue.“

  • CPEO associated with a single nucleotide deletion in the mitochondrial tRNATyr gene in: NEUROLOGY 2001;57:2298–2301

„In the muscle biopsy of a female patient with chronic progressive external ophthalmoplegia (CPEO), myopathy, and exercise intolerance, the heteroplasmic deletion of a single nucleotide (_T5885) in the mitochondrial tRNA tyrosine gene (tRNATyr) was found.“

  • Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse in: nature genetics | volume 28 | june 2001
    Prabhjit K. Grewal, Paul J. Holzfeind, Reginald E. Bittner & Jane E. Hewitt

„Spontaneous and engineered mouse mutants have facilitated our understanding of the pathogenesis ofmuscular dystrophy and they provide models for the development of therapeutic approaches.“

  • Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B in: nature genetics | volume 23 | october 1999
    Reginald E. Bittner, Louise V.B. Anderson, …

„The SJL mouse strain1 is susceptible to many induced autoimmune diseases such as experimental autoimmune Encephalitis (EAE) and inflammatory muscle disease.“

  • Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice in: Anat. Embryol (1999), Springer Verlag 1999
    Reginald E. Bittner, Christian Schöfer, Klara Weipoltshammer …

„It is commonly accepted, that regenerative capacity of striated muscle is confined to skeletal muscle by activation of satellite cells that normally reside quiescent between the plasmalemma and the basement membrane of muscle fibers. Muscular dystrophies are characterized by repetitive cycles of de- and regeneration of skeletal muscle fibers and by the frequent involvement of the cardiac muscle.“