Table 3.

Relation between altered hCC level and human diseases.

Observation	hCC response
Hereditary cystatin C amyloid angiopathy (Icelandic form)	Lower mutant hCC levels correspond to disease. hCC is deposited as amyloid plaques
Rheumatoid arthritis	Higher hCC levels corresponds to disease and inflammation
Cardiovascular disease	Higher hCC levels correspond to disease. Results uninfluenced by age, sex or body-mass index of patients
Sub clinical brain infarction	Higher hCC levels corresponds to disease
Stroke	Higher hCC levels corresponds to disease
Alzheimer’s disease	High hCC concentrations are toxic, optimal hCC concentrations protect neurons against amyloid deposition and degeneration
Multiple sclerosis	Cleavage of carboxy terminus of hCC
Diabetes	Higher hCC levels corresponds to disease
Neurodegenerative diseases	optimal hCC concentrations protect neurons against amyloid deposition and degeneration
Atherosclerosis, abdominal aortic aneurysm	Lower hCC levels cause an increased activity in cysteine protease
Shrunken pore syndrome	A specific pattern of the ratio of five glomerular filtration rate markers suggests that pore diameter in glomerular membrane is reduced
Dementia	Polymorphism of hCC gene is associated with higher or lower risk of disease
Age related macular degeneration	Recessive inheritance of the hCC A25 M mutant leads to a higher incidence of disease which is characterized by plaque formation. The A25T mutation is also related to this disease and the mutation occurs in an aggregation-prone region that also affects cystatin C signal cleavage.
Breast cancer	Cystatin C is inducible by p53 leading to suppressed protein concentrations in breast cancer. Low cystatin C concentrations correlate with poor breast cancer prognosis