It has been show that mito-ER tethering in a short mito-ER distance range is augmented in both presenilin 2 N141I mutant human fibroblasts15 and upon overexpression of AD-relevant caspase 3-cleaved WT Tau, which is localized specifically at mito-ER contact sites48. The gene discussed is MAPT; the disease is Alzheimer disease.