Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The peripheral nervous system (PNS), including peripheral nerves and dorsal root ganglion (DRG), is involved in numerous neurological disorders, such as peripheral neuropathies (diabetic neuropathy, chronic pain, etc.) and demyelination diseases (multiple sclerosis, congenital muscular dystrophy, Charcot-Marie-Tooth disease, etc.). Effective clinical interventions for those diseases are very limited. Gene therapy represents a novel therapeutic strategy for the PNS diseases, especially with simply and minimally invasive delivery methods. Previously, we have shown that adeno-associated virus type 8 (AAV8) can efficiently transduce muscles body wide by a simple intraperitoneal injection in neonatal mice. In this study, we investigated the capacity of AAV8 in transducing PNS in neonatal mice by intraperitoneal injection and also in adult mice by intramuscular injection. Efficient and long-term gene transfer was found in the white matter of the spinal cord, DRG neurons, and peripheral nerves in both groups, treated either as neonates or as adults, particularly neonates. In the adult mice injected with AAV8 in tibialis anterior and gastrocnemius muscles in one of the hind legs, more neurons were transduced in the lower part of the spinal cord than in the upper part; the DRG neurons were transduced more on the vector-injected side than in the contralateral uninjected side. Few cells in the gray matter of the spinal cord were transduced regardless of the delivery methods and age of the mice. These results support the mechanism of vector retrograde transport and suggest that AAV8 crosses blood-nerve barrier poorly. Our finding should have important implications in gene therapy for peripheral neurological disorders.
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PMID:Efficient retrograde transport of adeno-associated virus type 8 to spinal cord and dorsal root ganglion after vector delivery in muscle. 1971 1

Neuromuscular pathology is a classic hallmark of many diseases such as muscular dystrophy, myasthenia gravis, amyotrophic lateral sclerosis and spinal muscular atrophy. It is also a feature of many congenital and acquired myopathies and neuropathies such as diabetic neuropathy and toxin-exposure. The availability of experimentally accessible nerve-muscle preparations from rodent models in which pathological events can be studied in nerve and muscle, as well as at the neuromuscular junction, is therefore of fundamental importance for investigating neuromuscular disease. The group of small cranial muscles, which move the ear in the mouse provide ideal experimental preparations for the study of neuromuscular disease in vivo, but information regarding their anatomical and functional characteristics is currently lacking. Here, we provide a detailed description of the levator auris longus, auricularis superior, abductor auris longus and interscutularis muscles. In addition, we briefly review their differential fibre type and developmental characteristics, which can be exploited to aid our understanding of neuromuscular vulnerability and to provide preferable alternatives to more traditional muscle preparations such as gastrocnemius, soleus and diaphragm.
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PMID:Using mouse cranial muscles to investigate neuromuscular pathology in vivo. 2063 18