Table 1.
The major findings of copper chaperones/transporters and their regulator.
| Study Object | Gene Modification/Mutation | Finding | Reference |
|---|---|---|---|
| Human | SCO2 (E140K) | Fetal/infantile cardiac hypertrophy | [10,37,38,39,40] |
| Human | SCO1 (G132S) | Early onset cardiac hypertrophy | [41] |
| Mice | Myocardiocyte-specific Sco1 knockout | Dilated cardiomyopathy | [42] |
| Human | COA6 (W66R) | Cardiac hypertrophy | [8] |
| Human | COA6 (W59C/E87X) | Cardiac hypertrophy | [45] |
| Mice | Sod1 knockout | Cardiac injury (apoptosis and inflammation) | [46] |
| Mice | MT1/2 knockout | Cardiac dysfunction and fibrosis | [47] |
| Mice | Sod3 knockout | Cardiac injury (hypertrophy, fibrosis, apoptosis, and inflammation) | [48,49] |
| Human | SOD3 (R231G) | Positively associated with IHD, myocardial infarction, and HF in diabetic subjects | [50,51,52,53,54] |
| Human | Rs1307255 variant | Moderately increased circulating CP levels and high circulating CP levels are associated with major adverse cardiovascular events | [55,56] |
| Mice | Myocardiocyte-specific Ctr1 knockout | Cardiomyopathy with cardiac hypertrophy and endocardial fibrosis | [5] |
| Mice | Intestinal-specific Ctr1 knockout | Cardiac hypertrophy | [57] |
| Human | ATP7A mutation (Menkes disease) | High frequency of congenital heart disease | [58] |
ATP7A: copper-transporting ATPase 1; CP: ceruloplasmin; COA6: cytochrome c oxidase assembly factor 6; Ctr1: copper transporter 1; HF: heart failure; IHD: ischemic heart disease; MT: metallothionein; SCO: synthesis of cytochrome c oxidase; SOD: superoxide dismutase.