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Establishment of a Surgically-induced Model in Mice to Investigate the Protective Role of Progranulin in Osteoarthritis

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Progranulin locus deletion in frontotemporal dementia.

I Gijselinck¹, J van der Zee, S Engelborghs

¹Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Institute for Biotechnology (VIB), University of Antwerp, Antwerpen, Belgium.

|December 25, 2007

Summary

Genomic deletion of the progranulin (PGRN) gene, causing frontotemporal dementia (FTD), was identified in one patient. This finding confirms PGRN haploinsufficiency as a cause of neurodegeneration in FTD.

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Frontotemporal dementia (FTD) is often linked to progranulin (PGRN) gene mutations, suggesting haploinsufficiency.
Genomic deletions, leading to loss of a functional PGRN allele, are a potential cause of FTD.

Purpose of the Study:

To investigate the frequency and impact of PGRN gene deletions in Belgian FTD patients.
To confirm if PGRN haploinsufficiency alone is sufficient to cause FTD.

Main Methods:

Systematic quantitative analysis of PGRN in 103 FTD patients.
Comparison of identified deletions with 267 healthy control individuals.
Clinical assessment of the patient with the identified deletion.

Main Results:

A 54-69 kb genomic deletion encompassing PGRN and neighboring genes (RPIP8, SLC25A39) was found in 1% of FTD patients.
The deletion was absent in control individuals.
The affected patient exhibited typical FTD symptoms, consistent with PGRN haploinsufficiency.

Conclusions:

Reduced PGRN levels due to gene deletion are sufficient to cause neurodegeneration and FTD.
The prevalence of PGRN-related FTD may be underestimated due to unreported deletions.