There are several reports in the popular press in the last few days suggesting a breakthrough in curing, or at least treating Huntington’s disease based on two papers in Nature. One is “Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington’s disease” by Bindu D. Paul, Juan I. Sbodio, Risheng Xu, M. Scott Vandiver, Jiyoung Y. Cha, Adele M. Snowman& Solomon H. Snyder. Here are the contributions from authors:
B.D.P. and S.H.S. designed the research. B.D.P., J.S., R.X., M.S.V. and J.C. conducted experiments. B.D.P., J.S. and R.X. analysed data. A.M.S. prepared plasmid constructs and provided technical assistance. B.D.P. and S.H.S. wrote the paper.
Of course in the press it is “Snyder is proposing this as the actual mechanism of Huntington’s, …” This is one for which there is a veritable gold mine of interesting comments worth reading. Hard to chose my favorite, but I think it’s this:
Interesting, though I’d like to hope in an ideal world we would give Bindu and Juan credit since it was their hands and likely their thinking [supporting by the PI’s funding]. Especially as none of Solomon’s grants in the RePORTER database come very close to this.
Maybe help them get some publicity and land a job one of these days.
Must be nice to be Sol Snyder. Then there’s the interesting take from others working in the same field:
The problem I see with the mechanism proposed in this Nature paper is seems too specific for HD and huntingtin, however at least SEVEN other neurodegenerative diseases (SCA1, SCA2, SCA3/MJD, DRPLA, Kennedy’s Disease, SBMA, etc.) have been linked to the expansion of glutamine repeats in completely unrelated proteins.
To me this is just too much of a coincidence for each disease to be explained by a different mechanism, and I think any mechanism for HD must be shown to occur in all these other diseases before I would be prepared to believe it.
I’m a long time HD researcher, and don’t find this paper very compelling. … For what it’s worth, 10’s of compounds/transgenes/environmental perturbations have provided similar (or better) levels of rescue in this mouse model. Translation to other models, not to mention people, hasn’t been great. Nevertheless, people use it because it’s a convenient quick “in vivo” experiment to elevate your paper to Nature, assuming you’re Sol Snyder….
Another Huntington’s paper came out, but has not gotten anywhere near the press of Paul et al. (although it could just be the particulars of my search): Astrocyte Kir4.1 ion channel deficits contribute to neuronal dysfunction in Huntington’s disease model mice by Tong et al. I can’t find a link that calls this paper a “breakthrough” but it is termed “a new approach” in the press, complete with discussions of what comes next to translate it to humans.
In theory, supporting science, publicizing results in a medical context is generally a Good Thing. But it has also become part of the Glamour Journal/BSD/Large Lab-Large Grant vicious cycle. Would the first paper have gotten the publicity if Sol Snyder’s name had not been on it? If the Johns Hopkins publicity machine had not been behind it? Is the JH publicity machine better than the UCLA one (hence less about the Tong paper)? Btw, if you search on “huntington’s disease Khakh ” in the last 24 hours you get about 30 hits. If you add “Tong” (the first author) you get 5.
It seems to me that neither of these is going to lead to treatment for people with HD in the next year or so (but this is not my field of research). Publicizing it will certainly help support for funding for HD. That’s a good thing, unless of course you work on an un-sexy disease that doesn’t seem to kill people spectacularly. Should we be supporting research in to spectacular deaths?
The thing that frosts my shorts is that there are medical research areas (not necessarily diseases) entirely neglected because they are neither spectacularly killing people or letting children die whilst beautiful (as in little kids with great hair, crutches and polio are better for fund raising than birth anomalies that seem less beautiful to us) or diseases of rich white men. The whole area of chronic care medicine is incredibly neglected: rehabilitation, geriatrics, end stage dementias, birth anomalies with dysmorphologies.
It is often hard, even for grownups, or maybe especially for BSD grownups, to perceive the snowflake problem. My work needs more support. My work will definitely change the world. Deciding who is deserving of research money is a problem. No question. There are things, maybe only small things, but things nevertheless, that could be done to fix the system. And for those who would throw out the baby with the bathwater, and junk the whole NIH review system, I’m still waiting to hear an idea that is abetter overall solution.