Serum progranulin level in a subject carrying ‘predicted’ pathogenic PGRN mutation p.R564C
- Author:
Han-Joon Kim
;
Beom S Jeon
;
Ji Young Yun
;
Young Eun Kim
- Publication Type:Journal Article
- From:Neurology Asia
2011;16(4):343-344
- CountryMalaysia
- Language:English
-
Abstract:
Although most of the known pathogenic mutations in the progranulin gene (PGRN) are null mutations
leading to a reduction in the serum PGRN protein levels, missense mutations also have been identifi ed
in patients with frontotemporal lobar degeneration and in patients with Alzheimer disease. Among
these, p.R564C mutation was identifi ed in a late-onset AD patient with a reduced serum PGRN level.
However, recently, we found the p.R564C mutation in a healthy control subject raising doubts whether
this is a pathogenic mutation. In this report, we measured the serum PGRN levels in 20 subjects
without the p.R564C mutation and in one subject with the p.R564C mutation, to determine whether
the p.R564C mutation is associated with reduced serum PGRN levels. We found that the serum PGRN
level in the subject with the p.R564C mutation was not reduced compared to the subjects without the
p.R564C mutation. Our result reiterates that p.R564C may not be a pathogenic mutation.
- Full text:P020150819455366778460.pdf
