Alzheimer’s Disease Mechanism Traced to Genetic Defect That Lowers Levels of a Mitochrondrial Protein

Alzheimer’s Disease Mechanism Traced to Genetic Defect That Lowers Levels of a Mitochrondrial Protein
Researchers at two Norwegian institutions found that deficits in the mitochondrial protein PITRM1 led to an accumulation of amyloid-beta, whose deposits in the brain are known to cause Alzheimer's disease. The findings, drawn from a study of a family with a rare genetic defect, further suggest that mitochondria is a key player in neurodegenerative diseases. The study, Defective PITRM1 mitochondrial peptidase is associated with Ab amyloidotic Neurodegeneration, was published in the journal EMBO Molecular Medicine. PITRM1 is located in the mitochondrial matrix, the extensive inner membrane of this cellular structure turning nutrients into energy. The protein functions to degrade protein fragments, and a homozygous mutation in the gene – affecting both gene copies – was seen to lead to a multitude of symptoms in an affected family. Two siblings with the mutation suffered severe physical and psychological illness, including mental retardation, ataxia, cognitive decline, and psychosis. To study the consequences of the mutation in more detail, researchers from University of Bergen (UiB) and Haukeland University Hospital, Norway, induced mutations in cultured cells and studied a mouse lacking PITRM1. They observed that the mice had similar neurodegenerative characteristics as the patients, along with brain aggregates of amyloid-beta. "The family had reduced amounts of this PITRM1 protein and became
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