http://swarmknowledge.com/2011/08/12...somal-culprit/

A Lysosomal Culprit
// August 12th, 2011 // Biology, Health


by Stella M. Hurtley

Parkinson's disease (PD) has been clinically
linked to a rare lysosomal storage disease known
as Gaucher disease (GD). Patients with GS lack
the enzyme glucocerebrosidase (GCase), which
leads to the accumulation of the glycolipid glucosylceramide.
In PD, intracellular accumulation
and aggregation of the a-synuclein protein in
neurons is a key event in disease pathogenesis... the mechanistic
link between these two disorders [was elucidated].. In neuronal ~
tissue culture systems and in mouse disease ~
models, intracellular accumulation of glucosylceramide
compromised lysosomal proteolysis and ~
led to the accumulation of cytotoxic a-synuclein g
and neurodegeneration... glucosylceramide
directly promoted the aggregation of
purified a-SynUlclein in vitro....[This] also compromised
the production of mature, active lysosomal
GCase, generating a pathogenic cycle. Analysis
of postmortem brain samples from human
patients also suggested that GCase deficiencies
were often linked to pathological a-synuclein accumulation...


from: www.ScienceMag.com

Yes, I carry the mutation for Gaucher disease and I have a PD diagnosis. 23 and me extended an invitation to my dad (who also carries the mutation) offering free genotyping for all first degree relatives. They seem to be offering this to some who carry the LRRK and the GBA mutations.

With that invitation, and a visit from a Michael J. Fox Foundation representative to my own home, I get a sense that some very smart people are on our side trying to figure out the various genetic and environmental causes of the many diseases we call "Parkinson's disease."