Proteins general population

There are many polymorphisms scattered across the more than 100 kb of genomic DNA that encodes the CASR protein however, the common missense SNPs (Ala986Ser, Arg990Gly, and GlnlOllGlu) are all clustered in the 3 cytoplasmic tail (13,14). The most common of these, the Ala986Ser variant, has proven to be predictive of the unbound, extracellular calcium fraction ("/5,76). Other CASR SNPs may also be important (17) in the general population. 

Hypertrophic cardiomyopathy a primary myocardial disorder of sacromeric proteins with an autosomal dominant pattern of inheritance is characterized by asymmetric hypertrophy of the septum with or without dynamic obstruction of the outflow tract (1,2), The prevalence in the general population is estimated as 1 500 and it is the most common monogenic cardiac disorder, Annual mortality in an unselected population is reported to be about I % to 2%, and sudden death is the most common cause, Sudden death is assumed to be due to idiopathic ventricular arrhythmias, but hemodynamic factors and myocardial ischemia may be involved as well. 

In plasma, homocysteine is present as both free (< 1 %) and oxidized forms (>99%). The oxidized forms include protein (primarily albumin)-bound homocysteine mixed disulfide (80-90%), homocysteine-cysteine mixed disulfide (5-10%), and homocystine (5-10%). Several studies have shown the relationship between homocysteine and altered endothelial cell function leading to thrombosis. Thus, hyperhomocysteinemia appears to be an independent risk factor for occlusive vascular disease. Five to ten percent of the general population have mild hyperhomocysteinemia. 

Mortality secondary to cardiovascular disease is 10 to 30 times greater in dialysis patients than in the general population. In addition to traditional cardiac risk factors such as diabetes, hypertension, hyperlipidemia, tobacco use, and physical inactivity, patients with kidney disease have other unique risk factors. Among these are hyper-homocysteinemia, elevated levels of C-reactive protein, increased oxidant stress, and hemodynamic overload. Complications previously discussed such as anemia and metabolic disorders of CKD are also contributory. In particular, arterial vascular disease (i.e., atherosclerosis) and cardiomyopathy are the primary types of cardiovascular disorders present in the CKD population. These disorders lead to development of ischemic heart disease and its manifestations including myocardial infarction. As a predominant comorbidity, cardiovascular disorders and their sequela are the leading cause of death in the ESKD population. ... 

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