Publications by authors named "Elizabeth M van der Pijl"

Dystrophin is a sub-sarcolemmal component of skeletal muscle fibres and is enriched at the postsynaptic membrane of the neuromuscular junction (NMJ). In the mdx mouse, dystrophin absence not only causes muscle damage but also mild synaptic dysfunctions and clear morphological aberrations at NMJs. In particular, reduction of postsynaptic sensitivity for the neurotransmitter acetylcholine and extra exhaustion of presynaptic acetylcholine release during intense synaptic activity exists.

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Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by dystrophin deficiency. Dystrophin is present intracellularly at the sarcolemma, connecting actin to the dystrophin-associated glycoprotein complex. Interestingly, it is enriched postsynaptically at the neuromuscular junction (NMJ), but its synaptic function is largely unknown.

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Article Synopsis
  • Tomosyn-1 is known to inhibit vesicle fusion, while the role of tomosyn-2 in the nervous system was previously unclear.
  • Researchers created mice lacking tomosyn-2, which exhibited poor motor performance linked to changes at the neuromuscular junction, such as increased acetylcholine release and faster decline in muscle response during repeated stimulation.
  • The study suggests that tomosyn-2 plays a crucial role in motor function by regulating the release of neurotransmitters to maintain synaptic strength during high-frequency activity, highlighting its potential connection to neuromuscular disorders.
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Article Synopsis
  • - Duchenne muscular dystrophy is linked to mutations that hinder dystrophin production, leading to cardiac issues like dilated cardiomyopathy in all affected patients.
  • - Researchers evaluated the impact of varying levels of dystrophin in the hearts of different mouse models to see how it affects heart health and function.
  • - Mice with low, mosaic levels of dystrophin (3-15%) showed delayed heart disease and better heart function compared to dystrophin-negative mice, suggesting that even minimal dystrophin presence can help mitigate cardiomyopathy.
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