Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
| Autor: | Cynthia Soderblom, Craig Blackstone |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Pathology
medicine.medical_specialty BSCL2 Biological Transport Active Poison control Mitochondrion Mitochondrial Proteins Pathogenesis Animals Humans Medicine Pharmacology (medical) Axon Gene Heat-Shock Proteins Myelin Sheath Neurons Pharmacology Genetics Spastic Paraplegia Hereditary business.industry Phenotype medicine.anatomical_structure business Intracellular |
| Zdroj: | Pharmacology & Therapeutics. 109:42-56 |
| ISSN: | 0163-7258 |
| DOI: | 10.1016/j.pharmthera.2005.06.001 |
| Popis: | The hereditary spastic paraplegias (HSPs) comprise a clinically and genetically diverse group of inherited neurological disorders in which the primary manifestation is progressive spasticity and weakness of the lower limbs. The identification of over 25 genetic loci and 11 gene products for these disorders has yielded new insights into the molecular pathways involved in the pathogenesis of HSPs. In particular, causative mutations in proteins implicated in mitochondrial function, intracellular transport and trafficking, axonal development, and myelination have been identified. In many cases, the proper intracellular trafficking and distribution of molecules and organelles are ultimately thought to be involved in HSP pathogenesis. In fact, deficits in intracellular cargo trafficking and transport are concordant with the length dependence of the distal axonopathy of upper motor neurons observed in HSP patients. Through a better understanding of the functions of the HSP gene products, novel therapeutic targets for treatment and prevention are being identified. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect