蛋白質摺疊有關疾病(Protein folding-related diseases)

最常見的為神經退化方面的疾病，蛋白質若摺疊錯誤會堆積，因而對細胞造成傷害。造成疾病的方式有兩種：一種是基因突變導致摺疊發生錯誤，使得原本應該要被分解的蛋白質沒辦法被分解而堆積造成疾病；另一種則相反，是因為摺疊錯誤而導致有需要的蛋白質被降解
A. 因蛋白質堆積所引發的疾病：

Disease	Protein involved
Alzheimer’s Disease	Amyloid-peptide， Tau
Parkinson’s Disease	Alpha-Synuclein
Creutzfeldt Jakob Disease	Prion protein
Type II Diabetes	Amylin
Primary Systemic Amyloidosis 類澱粉沉著症	Immunoglobulin light chains
Haemodialysis -related amyloidosis	beta-2-Microglobulin

B. 因蛋白質被降解所造成的疾病：

Disease	Protein involved
Cystic fibrosis	CFTR
Retinitis Pigmentosa 3	Rhodopsin
alpha-1 antitrypsin eficiency	alpha-1 anti trypsin
Cancer	p53
Fabry Disease	alpha-galactosidase A
Gaucher’s disease	β-glucocerebro -sidase
Osteogenesis imperfecta	Type 1 procollagen pro a
Marfan syndrome	Fibrillin

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