In previous posts, we have looked at Small and Duff’s Dual Pathway hypothesis relating to Alzheimer’s Disease. This specifically mentions VPS35 as a potential upstream regulator of Amyloid and Tau pathology.
In the literature VPS35 is frequently discussed in relation to Parkinson’s Disease. In this paper by Gambardella and colleagues, they look at the relationship between Vacuolar Protein Sorting Genes and Parkinson’s Disease.
In their review of the literature they note that
(a) p.Asp620Asn is the most common mutation in VPS35 in Parksinson’s Disease
(b) There are a number of other rarer mutations
(c) The prevalence of VPs35 mutations in PD* reaches 0.22%
(d) Quoting a study by Tang et al, they note that modelling the biological correlates of the clinical findings (i.e. mutations) is not so straightforward and much remains to be clarified.
The authors also cover other components of the Retromer complex and also evidence for the possible pathophysiology involved.
*They refer to mixed PD which I interpreted as the combination of Familial and Sporadic cases
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