| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --low
|
|
|
reduced by approximately 50p100 in monocyte-derived macrophages of low HDL-C subjects, most significantly those with cholesterol efflux defects but without mutations in ABCA1 |
| constitutional
|
|
| --over
|
|
significantly increased in the frontal cortex, in pyramidal and granule cells of the hippocampus, and in cerebellar neurons in autistic subjects as compared to controls  |
| tumoral
|
|
| --over
|
|
|
in human breast carcinoma and many other tumor types |
| constitutional
|
|
|
| loss of function
|
|
partial loss of CTSD activity is sufficient to cause a reduction in lysosomal function, which in turn leads to SNCA aggregation and propagation of the aggregates |
| constitutional
| germinal mutation
|
|
|
|
|
increased lysosomal storage due to CTSD deficiency causes oxidative damage in brain pericytes, subsequently resulting in an increased vessel diameter, enhanced permeability of the BBB and the infiltration of peripheral blood mononuclear cells (PBMCs) |
| constitutional
|
|
| --low
|
|
|
reduced CTSD level is an important factor that may contribute to the pathogenesis of preeclampsia, possibly by inhibiting normal trophoblastic invasion |
