The Journal of Cell Biology · 2008 · 418 citations · 32 references
Life SciencesNeurologyNeuroscienceDementiaMolecular NeuroscienceNeurodegenerationFrontotemporal DementiaMolecular Basis Of NeurodegenerationNeurodegenerative Disease GeneticsNeurodegenerative DiseasesNeurodegenerative DisordersNeurogenetic DisordersGenetic NeurodegenerationMutationNeurodegeneration GeneticsNeurodegeneration PathogenesisNeurodegenerative GeneticsNeuronal Survival SignalingNeurotrophic Factor SignalingProgranulin-related Frontotemporal Dementia
Recently, mutations in the progranulin (PGRN) gene were found to cause familial and apparently sporadic frontotemporal lobe dementia (FTLD). Moreover, missense changes in PGRN were identified in patients with motor neuron degeneration, a condition that is related to FTLD. Most mutations identified in patients with FTLD until now have been null mutations. However, it remains unknown whether PGRN protein levels are reduced in the central nervous system from such patients. The effects of PGRN on neurons also remain to be established. We report that PGRN levels are reduced in the cerebrospinal fluid from FTLD patients carrying a PGRN mutation. We observe that PGRN and GRN E (one of the proteolytic fragments of PGRN) promote neuronal survival and enhance neurite outgrowth in cultured neurons. These results demonstrate that PGRN/GRN is a neurotrophic factor with activities that may be involved in the development of the nervous system and in neurodegeneration.
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