Diseases mechanisms

Farber, J.L., Kyle, M.E. and Coleman, J.B, (1990). Biology of disease mechanisms of cell injury by activated oxygen species. Lab. Invest. 62, 670-679. 

Rottkamp CA, Nunomura A, Hirai K, Sayre LM, Perry G and Smith MA (2000). Will antioxidants fulfill their expectations for the treatment of Alzheimer disease Mechanisms of Ageing and Development, 116, 169-179. 

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TABLE 36-1 Mechanisms of pathogenesis of PNS-specific disease Mechanism... 

Mouse models offer opportunities for discovering disease mechanisms and for testing novel treatment strategies 739... 

In models of MND, therapeutic manipulations, manipulation of expression of selected genes in specific cell populations [15, 16], creation of chimeric animals to test whether abnormalities are cell autonomous [17], administration of trophic factors to prevent trophic cell death [18-20] and testing of a variety of drug therapies [21-24] have been used to try to ameliorate phenotypes and thus provide insights into disease mechanisms and potential treatment strategies [1, 3, 4, 15, 25, 26]. Results of these studies are being used to design novel therapies to be tested in clinical trials in humans. 

Lundmark, K., Westermark, G. T., Olsen, A., and Westermark, P. (2005). Protein fibrils in nature can enhance amyloid protein A amyloidosis in mice Cross-seeding as a disease mechanism. Proc. Natl. Acad. Sci. USA 102, 6098-6102. 

Bird, A. C. (1992) Investigation of disease mechanisms in retinitis-pigmentosa. Ophthal. Paediatr. Genet. 13, 57-66. 

Liu, B., Hong, J.S. (2003) Rome of microglia in inflammation-mediated neurodegenerative diseases mechanisms and strategies for therapeutic intervention. J. Pharmacol. Exper. Ther., 304, 1-7. 

Friedman SL (2004). Mechanisms of disease Mechanisms of hepatic fibrosis and therapeutic implications. Nat Clin Pract Gastroenterol Hepatol 1 98-105. 

There is a very strong genetic component to type 2 diabetes, with evidence favoring a polygenic disease mechanism but with few of these genes definitively identified. 

The answer is A. The constellation of symptoms exhibited by this patient is characteristic of homocystinuria. The impairment of her cognitive function could be attributed to many conditions, but the key findings are ectopia lentis with downward lens dislocation and osteoporosis in a female of this age. Homocystinuria is produced by inherited deficiency of one of the enzymes in the pathway of Met conversion to Cys. The most common form is cystathionine P-synthase deficiency, which results in accumulation of all upstream components of the pathway, including homocysteine, which is responsible for the toxic effects, and Met, which becomes elevated in the blood. Cystathionine and cysteine, which are both downstream of the block in the pathway caused by cystathionine P Synthase deficiency, would be decreased. Metabolic pathways for lactate and urea are not involved in this disease mechanism. 

Before discussing the postulated disease mechanisms in postinfectious OCD and tic disorders, it is necessary to review several related concepts. 

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