Big news in PSP community – genetics study finally published!

This is big news for the PSP (and CBD) community: the genetics study finally got published yesterday in the journal Nature Genetics. (I think Dr. Schellenberg had gotten side-tracked on some Alzheimer’s-related research, so it’s good to see the research finally seeing the light of day.) The data published are limited to PSP.

The CurePSP press release talks about “three new genes linked to” PSP being identified. In Dr. Schellenberg’s November 2009 update (see earlier blog post), he talked about four new genes being identified. The difference is that we’ve known about MAPT – the tau gene – being associated with PSP for a long time. (Dr. Irene Litvan did that research.) Dr. Schellenberg and other researchers found a second variant of MAPT that is also associated with PSP. So that’s how we get to four new variants.

This research is made possible through brain donations from those with PSP. Dr. Schellenberg said in November 2009 that 1212 PSP brains were donated and included in the first go-round with a target of 1000 more brains to be included in a replication study. As it worked out, the data published yesterday were based on:

* 1,114 PSP cases – stage 1
* 1,051 PSP cases – stage 2

At least four local support group members were included in stage 1 (including my father). And four were included in stage 2.

Many more brains have been donated in the last 18 months, and that tissue will be part of future studies.

Perhaps the next steps are developing tests that look for these genetic variations in the living. And developing treatments based on this new knowledge. Certainly other work into finding the cause and cure for PSP (and CBD) will take advantage of this new data as well.

I’ve copied the understandable CurePSP press release below. In another post, I’ll copy the abstract of the Nature Genetics paper, authored by the PSP Genetics Study Group. The authors are all the big names in PSP genetics research. I’m not entirely sure but I think it’s a disappointment that this is published as a letter rather than as an a research article; I believe that letters are not subject to the same sort of peer review as the articles. Still, it’s great that the research has been published.


CurePSP press release:

CurePSP-funded Study Identifies Three New Genes Linked to Progressive Supranuclear Palsy

TIMONIUM, Maryland, June 19, 2011 – An international team of researchers led by Gerard D. Schellenberg, PhD, a member of the CurePSP Genetics Consortium and professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania, has identified three new genes that can increase the risk of people developing Progressive Supranuclear Palsy (PSP).

PSP is a rare neurodegenerative brain disease, similar to Parkinson’s disease, which causes severe disability by destroying parts of cells that allow the brain to function normally. While PSP has underlying biological similarities to Alzheimer’s disease, a disease which primarily affects memory, PSP impacts a person’s physical movement and bodily functions. PSP leads to progressive decline in patients – there is no known cause or cure.

The study found significant genetic signals associated with PSP risk at several genes including STX6, EIF2AK3, MOBP, and confirmed two variants within MAPT (the tau gene), which influences tau expression in the brain. The identified genes encode proteins for vesicle functioning, protein folding, and myelin – critical functions that help the brain operate normally. The findings appear in the current issue of Nature Genetics (NG-A29596R1).

“The CurePSP Genetics Program and this genome-wide association study is perhaps the single most important research project to date funded by the Foundation,” said Dr. Richard Gordon Zyne, President-CEO of CurePSP. “The study, which is a product of our genetics program, is significant because it will help researchers better understand the factors that lead to the development of PSP.”

Understanding the cause of the disease is a critical step in the battle against PSP, and may lead to the creation of tools for early diagnosis, preventative drug treatments, and eventually, a cure.

The study was supported by grants from the Foundation for PSP | CBD and Related Brain Diseases (CurePSP), the Peebler PSP Research Foundation, and the National Institutes of Health (NIH)’s National Institute on Aging (NIA) and the National Institute of Mental Health (NIMH), among other organizations.