Alzheimer's disease-causing presenilin-1 mutations have deleterious effects on mitochondrial function
Jihoon Han, Hee-Jin Park, Chinmoyee Maharana, A‐Ryeong Gwon, Jinsu Park, Seung Hyun Baek, Han‐Gyu Bae, Yoonsuk Cho, Hark Kyun Kim, Jae Hoon Sul, Jeongmi Lee, Eunae Kim, Jun‐Sik Kim, Yong Eun Cho, Sunyoung Park, L. Palomera, Thiruma V. Arumugam, Mark P. Mattson, Dong‐Gyu Jo
Abstract
mutations has a deleterious effect on mitochondrial functions in a variety of ways. The adverse effects of PS1 mutations on mitochondria may contribute to MAMs formation and oxidative stress resulting in an accelerated age of disease onset in people harboring mutant PS1.
Topics & Concepts
PresenilinMitochondrionMutantCell biologyEndoplasmic reticulumBiologyUnfolded protein responseInner mitochondrial membraneOxidative stressMolecular biologyBiochemistryAlzheimer's diseaseGenePathologyDiseaseMedicineMitochondrial Function and PathologyAlzheimer's disease research and treatmentsCholinesterase and Neurodegenerative Diseases