Human diseases Huntington disease

Alzheimer s disease, Parkinson disease, prion diseases (Creutzfeld-Jacob in humans, scrapie in sheep), Huntington disease, dementia with Levy s bodies, sclerosis multiplex and amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and vascular dementia are the most commonly occurring neurodegenerative diseases, with different (and often unknown) pathophysiology, creating serious health care problems and... 

Goldberg YP, Kalchman MA, Metzler M, et al (1996) Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum Mol Genet 5 177-185... 

Protein lysine methyltransferases (PKMTs) are a family of enzymes that transfer the activated methyl group from S-adenosyl-L-methionine (SAM) to specific lysine residues on various substrates. The PKMTs have been causally linked to various human diseases including cancer [140], Huntington s disease [141], and growth defects [142, 143]. The substrates of the PKMTs are typically histones [144-146], but there are several methyltransferases methylate non-histone substrates, such as the tumor suppressor p53 [147, 148], the estrogen receptor ERa [149], and the ATPase Reptin [150]. Given the importance of these enzymes in normal and... 

Persistent TD is probably the consequence of irreversible striatal damage. But the corpus striatum is responsible for more than motor control it is a complex organ that influences a wide range of complex human behaviors. No disease that afflicts striatal tissue is known to have only motor consequences Parkinson s disease and Huntington s disease are only two examples, (p. 150)... 

The family of cysteine proteases, which are called caspases, plays a major role in the execution of apoptotic cell death (12). Many studies suggest that increased apoptosis and caspase activity contribute to tissue damage in both acute (e.g., myocardial infarction, stroke, sepsis, spinal cord injury) and chronic (e.g., Alzheimer s, Parkinson s, Huntington s disease) human diseases (13,14). Caspase family members are also prominently... 

There are now several transgenic mouse models of Huntington s disease in which various different fragments of the whole Huntington s gene have been incorporated into the mouse. These models show severe movement disorders and imitate the human disease to varying degrees. 

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