Wednesday, July 20, 2011

Genetics of PSP further elucidated

Actor Dudley Moore died in 2002 with PSP
About 20,000 people in the United States are currently diagnosed with Progressive Supranuclear Palsy (PSP). A variant in the MAPT gene, has been repeatedly linked to the disease. Researchers led by Gunter Höglinger of Philipps-Universitat in Germany studied more than 2,000 individuals of European descent diagnosed with PSP, comparing their DNA to that of nearly 7,000 healthy European individuals. The results were published last month in the journal Nature Genetics. The study reported several single nucleotide polymorphisms (SNPs) associated with the disease. One of the SNPs reported by Höglinger’s team is located in MAPT and is closely linked to the already well-established variant for PSP risk. In this study, each copy of the G version of rs8070723 in MAPT was associated with about 5.5 times lower odds of the disease. (Source:


Anonymous said...

I'd like to know how medicine is planning to utilize this information proactively. For instance, it could be used to properly screen human tissues and organs for transplantation or for better selecting the cell lines used in the booming biotech and pharmaceutical industries. Identifying this patient population earlier isn't bringing them more promising medical therapy. Instead, it seems to have prompted the extension of unproven, "off label" uses of drugs that provided questionable benefit to begin with. How is further elucidating their genetic flaws really meant to benefit this very unfortunate patient population or society? What is the point of having the information and ability to do better and then knowingly electing not to do so? Medicine seems to be able and satisfied to look the other way as they prescribe off label therapy. In a world that sees no incentive in doing better for the neurodegnerative diseases marked with dementia, there is definitely no advantage for these people to uncover their status any earlier than when they become symptomatic.

Anonymous said...

Therapeutic trials of new drugs can only be evaluated properly if the appropriate target population is enrolled. If you have to wait for the autopsy to prove the diagnosis your trial will take too long and you will lose too many patients to other diagoses. Genetic testing to identify patients early in their course of disease is essential to testing of new therapies.

Douglas C Miller MD,PhD posting as anonymous because of google password issues.

Anonymous said...

Thank you for answering. I do see your perspective. However, I am still a little more than concerned about the honest commitment including but not limited to the financial commitment by the governments and countries represented by a multitude of researchers to bring truly promising medical therapy to a few that society in general will find as rare sufferers of a rare disease. The fact that the disease impairs cognition brings it down yet another notch in the eyes of many.

Is there anything promising in the pipeline for this particular group of patients? We seem to be pretty far along on noting their genetic risk.