Enhanced cholesteryl ester and phospholipid synthesis were found in presenilin-1 and -2 double knockout mouse embryonic fibroblast cells and in fibroblasts from patients with both the familial and sporadic forms of AD, suggesting an aberrant upregulation of MAM function and ER-mitochondria crosstalk in these cell models [198]. The gene discussed is PSEN1; the disease is Alzheimer disease.