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Progranulin deficiency leads to reduced glucocerebrosidase activity
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Progranulin deficiency leads to reduced glucocerebrosidase activity
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Journal Article
Progranulin deficiency leads to reduced glucocerebrosidase activity
2019
Overview
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar degeneration (FTLD) and complete loss results in neuronal ceroid lipofuscinosis (NCL). Although the exact function of PGRN is unknown, it has been increasingly implicated in lysosomal physiology. Here we report that PGRN interacts with the lysosomal enzyme, glucocerebrosidase (GCase), and is essential for proper GCase activity. GCase activity is significantly reduced in tissue lysates from PGRN-deficient mice. This is further evidence that reduced lysosomal hydrolase activity may be a pathological mechanism in cases of GRN-related FTLD and NCL.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
/ Animals
/ Enzymes
/ Female
/ Frontotemporal Lobar Degeneration - genetics
/ Frontotemporal Lobar Degeneration - metabolism
/ Genes
/ Glucosylceramidase - genetics
/ Glucosylceramidase - metabolism
/ Humans
/ Lysates
/ Male
/ Medicine and Health Sciences
/ Mice
/ Mutation
/ Neuronal ceroid lipofuscinosis
/ Neuronal Ceroid-Lipofuscinoses - genetics
/ Neuronal Ceroid-Lipofuscinoses - metabolism
/ Neurons
/ Peptides
/ Proteins
/ Recombinant Proteins - genetics
/ Recombinant Proteins - metabolism
/ Research and Analysis Methods
/ Tumors
