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Genetic analysis and functional studies of the RAB7, the SPTLC1 and HSN2 genes in patients with diabetic neuropathy
- Abstract
- Diabetic neuropathy is a frequent and challenging complication of diabetes mellitus type I and type II with an estimated prevalence up to 60% or even higher. Patients initially often complain of paresthesia, pain and dysthesia.
Chronic neuropathic foot ulceration is a severe and feared complication of diabetic neuropathy. It has to be dustinguished from necrosis and gangrene due to ischemia.
Hereditary neuropathies (HSN) are rare disorders of the peripheral nerves which are characterized by familial occurence of prominent sensory disturbances in the lower limbs, variable motor weakness and waisting, foot deformity and autonomic features. Very recently, molecular genetic studies have shown, that mutations in two genes, i.e. serine palmitoyltransferase long chain base subunit-1 (SPTLC1) and the small GTPase late endosomal protein RAB7 are responsible for two forms of ulcero-mutilating neuropathies which are genetically subclassified as HSN type 1 and CMT 2B, respectively.
Hioever, the mechanism how mutations in SPTLC2 and RAB7 lead to the motor and sensory neuropathy are still unknown. Also, no studies have been undertaken so far to investigate whether these two genes and their products do also play a role in diabetic neuropathies.
- Project Leader:
- Auer-Grumbach Michaela
- Duration:
- 15.04.2005-15.04.2006
- Type of Research
- basic research
- Staff
- Auer-Grumbach, Michaela, Project Leader
- Pieber, Thomas, Co-worker