BIOLOGY OF SOME NEUROMUSCULAR DISORDERS

摘要: In order to understand and possibly interfere/ treat neuromuscular disorders it is important analyze the biological events that may be causing disability. We illustrate such attempts on two examples of genetically determined diseases: 1) Duchenne muscular dystrophy (DMD), 2) Spinal atrophy (SMA). DMD an x-linked hereditary muscle disease leads progressive weakness. The altered gene in affects dystrophin, a membrane associated proteine. Attempts were made replace deficient or missing gene/ protein into muscles children. Two main strategies explored: Myoblast stem cell transfer Gene delivery. possible use methods other than introduction for dystrophin fibres are based knowledge about adaptive potential different functional demands ability express new set genes response stimuli. Stretch overload now known lead changes expression normal muscle, success stretch management boys most likely due changes. Electrical stimulation also powerful stimulus inducing this method too has produced beneficial effects progress mice men. SMA heterogeneous group where loss lower motoneurones weakness atrophy. subdivides 3 forms according severity symptoms age onset. All three have been mapped chromosome 5q11.2-13.2. Clinical features all these include hypotonia shortly after birth, symmetrical atrophy, finger tremor, areflexia hyporeflexia later contractures. patients with 1 2 development parts motor unit slower. rate maturation critical survival both motoneurone interfere time course cause fibre death. proposal SMN gene/protein involved process developmental cells therefore crucial their put forward. understanding influence help devise therapeutic interventions. These a) protection body during period its by reducing excitability enhancing defences upregulating heat shock proteins, b) stabilizing junctions enhance prolong retrograde influences from affect survival, c) protecting apoptosis, as well stimulating activity appropriate younger results delayed development. approaches should considered addition conjunction interference product. interfere/treat presentation I would dystrophy,