Proteins abnormal

Wilson s disease is another autosomal recessive disease leading to cirrhosis. Protein abnormalities result in excessive copper deposition in body tissues. The faulty protein is responsible for facilitating copper excretion in the bile, so copper accumulates in hepatic tissue. High copper levels within hepatocytes are toxic, and fibrosis and cirrhosis may develop in untreated patients. Those with Wilson s disease usually present with symptoms of liver or neurologic disease while still in their teens. 

Borroni B, Colciaghi F, Caltagirone C, et al. Platelet amyloid precursor protein abnormalities in mild cognitive impairment predict conversion to dementia of Alzheimer type A 2-year follow-up study. Arch Neurol 2003 60(12) 1740-1744. 

Burning, stinging, itching. Squamometry may show protein abnormality... 

Clinton SM, Abelson S, Haroutunian V, Davis KL, Meador-Woodruff JH. 2004. Neurofilament subunit protein abnormalities in the thalamus in shizophrenia. Thalamus Relat Syst 2 265-272. 

Hag n I, Nunkn A, Bjemim OJ, Solum NO, Caen J Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann s thrombasthenia and Bernard Soulier syndrome. J Clin Invest 65 722-731,1980. 

Estimates of FT4 and FT3 generally give results in healthy subjects, hyperthyroid and hypothyroid patients, and patients with only mild binding protein abnormalities that are comparable with those of reference methods such as direct equilibrium dialysis and RIA assays. In these individ-... 

Masters, C.J. and Beyreuther, K. (1990) Protein abnormalities in neurofibrillary tangles their relation to the extracellular amyloid deposits of the A4 protein in Alzheimer s disease. In R.J. Wurtman, S. Corkin, J.H. Growdan and E. Ritter-Walker (Eds.), Advances in Neurology, Alzheimer s Disease, Vol. 51, Raven Press, New York, pp. 151-161. 

Oxidative damage to cells is a common phenomenon, and quality control of modified proteins is important to maintain normal cellular functions. In the cytoplasm, nucleus, and endoplasmic reticulum, the proteasome is involved in the removal of various types of proteins such as ubiquinated, misfolded, or unfolded proteins, and oxidized proteins. Abnormal inhibition of proteasome may contribute to neuro-degenerative diseases such as Alzheimer disease, Parkinson disease, Lewy body dementia, and Huntington disease [31-40]. Neuromuscular diseases, such as sporadic inclusion-body myositis (s-IBM) share several phenotypes described in the brain tissues of Alzheimer and Parkinson disease patients [41]. One such similarity to Alzheimer disease is the accumulation of amyloid-P (AP), phosphory-lated tau (p-tau), and ubiquitin, which are often found within these aggregates [42, 43]. In s-IBM patients, significant proteasome abnormalities were identified including, increased 26 S proteasome expression and abnormal accumulation of 26S proteasome, but reduced proteasome activities [44]. The inverse relationship between increased expression... 

Other proteins abnormally accumulated in s-IBM muscle fibers are described below in relation to other abnormalities, and are also referenced in Table 7.1. 

---