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  • Biology of some neuromuscular disorders = Biologija nekaterih živčnomišičnih bolezni
    Vrbová, Gerta ; Hausmanowa-Petrusewicz, Irena
    In order to understand and possibly interfere/ treat neuromuscular disorders it is important to analyze the biological events that may be causing the disability. We illustrate such attempts on two ... examples of genetically determined neuromuscular diseases: 1) Duchenne muscular dystrophy (DMD), and 2) Spinal muscular atrophy (SMA). DMD is an x-linked hereditary muscle diseasethat leads to progressive muscle weakness. The altered gene in DMD affects dystrophin, a muscle membrane associated proteine. Attempts were made to replace the deficient or missing gene/ protein into muscles of Duchenne children. Two main strategies were explored: 1) Myoblast and stem cell transfer and 2) Gene delivery. The possible use of methods other than the introduction of the missing gene for dystrophin into muscle fibres are based on the knowledge about the adaptive potential of muscle to different functional demands and the ability of the muscle to express a new set of genesin response to such stimuli. Stretch or overload is now known to lead to changes of gene expression in normal muscle, and the success of muscle stretchin the management of Duchenne boys is most likely to be due to such adaptive changes. Electrical stimulation of muscles is also a powerful stimulus for inducing the expression of new genes and this method too has produced beneficial effects on the progress of the disease in mice and men. SMA is a heterogeneous group of hereditary neuromuscular disorders where the loss of lower motoneurones leads to progressive weakness and muscle atrophy. The disease subdivides into 3 forms according to the severity of the symptoms and age of onset. All three forms of SMA have been mapped to chromosome Sq11.2-13.2. Clinical features of all these forms of SMA include hypotonia shortly after birth, symmetrical muscle weakness and atrophy, finger tremor, areflexia or hyporeflexia and later contractures. (Abstract truncated at 2000 characters).
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 73, supl. 2, jun. 2004, str. II-3-II-10)
    Vrsta gradiva - prispevek na konferenci
    Leto - 2004
    Jezik - angleški
    COBISS.SI-ID - 17991897

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    Digitalna knjižnica Slovenije - dLib.si

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