Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing.
Published version
Peer-reviewed
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Repository DOI
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Authors
Boczonadi, Veronika
Horvath, Rita https://orcid.org/0000-0002-9841-170X
Abstract
There is increasing evidence that common molecular pathways in neurons are closely linked with mitochondrial function and that mitochondrial dysfunction is connected to various forms of neurodegenerative diseases. For instance, mitochondria are involved in amyloid‐β (Aβ) deposition in Alzheimer's disease, although the exact molecular pathways remain largely unknown. Brunetti et al (2015) in this issue of EMBO Molecular Medicine provide a novel link between Aβ accumulation and mitochondria. A pathogenic mutation in a Norwegian family in the mitochondrial metallopeptidase PITRM1 is found to underlie a novel mitochondrial neurodegenerative phenotype associated with Aβ accumulation.
Description
Keywords
Alzheimer Disease, Amyloid beta-Peptides, Humans, Metalloproteases, Mitochondrial Diseases, Mutation
Journal Title
EMBO Mol Med
Conference Name
Journal ISSN
1757-4676
1757-4684
1757-4684
Volume Title
8
Publisher
Springer Science and Business Media LLC