Diseases proteins associated with

The failure of proteins to fold into their functional forms can occasionally lead to "misfolding" or "conformational" diseases.140 Many of these diseases are associated with the formation of amyloid protein, an insoluble material that is deposited as fibrils or plaques in different tissues and organs of the body. They include amyloid Ap protein as the major constituent of the plaques in Alzheimer patients, PrPc associated with neuro-degenerative diseases, a-synuclein (AS) associated with Parkinson s diseases, transthyretin (TTR) as a homotetrameric protein that is involved in the transport of thyroid hormones and retinol in human serum. In particular, the Ap protein is a peptide of 39-43 amino acids that is the... 

Description of disease (s) associated with a deficiency of a protein... 

Most diseases, apart from trauma and infections, have their origins in the genes or the proteins associated with them. 

Murrell, J., Farlow, M., Ghetti, B., Benson, M.D. (1991) A mutation in the amyloid precursor protein associated with hereditary Alzheimer s disease. Science, 254,97-99. 

Ribozymes therefore show promise as therapeutic agents with which to downregulate RNA activity. For instance, a ribozyme-based drug could be used to attack the mRNA coding for a protein associated with a particular disease this attack would prevent the protein s expression by rendering the mRNA untranslatable. 

The molecular basis for the association between apoE4 and Alzheimer s disease is not yet known. Speculation has focused on a possible role for apoE in stabilizing the cytoslceletal structure of neurons. The apoE2 and apoE3 proteins bind to a number of proteins associated with neuronal microtubules, whereas apoE4 does not. This may accelerate the death of neurons. Whatever the mechanism proves to be, these observations promise to expand our understanding of the biological functions of apolipoproteins. 

Borroni B, Colciaghi F, Corsini P, et al. Early stages of probable Alzheimer disease are associated with changes in platelet amyloid precursor protein forms. Neurol Sci 2002 23(5) 207-210. 

Erythropoietin [ery throw PO eetin] is a glycoprotein, normally made by the kidney, that regulates red cell proliferation and differentiation in bone marrow. Human erythropoietin, produced by recombinant DNA technology, is effective in the treatment of anemia caused by end-stage renal disease, anemia associated with HIV-infected patients, and anemia in some cancer patients. Supplementation with iron may be required to assure an adequate response. The protein is usually administered intravenously in renal dialysis patients, but in others the subcutaneous route is preferred. Side effects such as iron deficiency and an elevation in blood pressure occur. [Note The latter may be due to increases in peripheral vascular resistance and/or blood viscosity.]... 

Fish and fish oil components, EPA, and DHA are of benefit in Alzheimer s disease (209-211). A reduction in dietary DHA in an Alzheimer s mouse model showed a loss of postsynaptic proteins associated with increased oxidation and showed increased caspase-cleaved actin, which was localized in dendrites however, DHA-restricted mice when given DHA were protected against dendritic pathology and behavioral deficits and showed increased antiapoptotic BAD phosphorylation, which implies that DHA could be useful in preventing Alzheimer s disease... 

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