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In this week’s F1000 roundup (your primary source of free F1000 evaluations) we have the genetic basis of height, a handle on the treatment of Parkinson’s disease, the effects of discrimination on lesbian, gay and bisexual adults, a new diagnostic for leptospirosis, and, I promise, no structural biology…

A genome-wide association study¹ of nearly 200,000 people finds that human height depends on hundreds of variations of at least 180 different loci. The approach is noteworthy for assuming that large numbers of variations, with individually small effects, can explain much phenotypic variation. The downside is that predicting phenotype by looking at a small number of loci—as is common in current genotyping tests—is all but impossible.

In a personal note, Faculty Member Salvatore Di Mauro reflects on the controversy surrounding the role of mitochondrial dysfunction in Parkinson’s disease (PD). He reports that the controversy appears to have been laid to rest:

What this article adds to the literature is what a good conductor adds to an orchestra: a concerted and comprehensive interpretation of disparate studies. The result is a clear demonstration that, yes, gene sets controlling mitochondrial pathways are underexpressed in PD.

Beyond ‘reasonable doubt’ says Di Mauro, it is now established that mitochondrial dysfunction² is at the heart of PD progression; moreover, if we could upregulate key genes, such as PGC-1alpha, we might ameliorate the symptoms of PD.
[pullquote]if we could upregulate key genes, such as PGC-1alpha, we might ameliorate the symptoms of PD[/pullquote]
Two thirds of lesbian, gay or bisexual (LGB) adults experience some kind of discrimination (sexual orientation, race or gender) during their lifetime, according to a study that set out to assess the potential association between discrimination and substance use disorders among LGB adults³. Interestingly—and sadly—those who experienced multiple discriminatory events were more likely to suffer from substance abuse disorders. This is practically important not simply because it amply demonstrates the human cost of bigotry, but also could inform health practitioners in their treatment of substance abuse disorders, and contributes to the understanding of health disparities among sexual minorities.

Finally this week, the diagnosis of leptospirosis (the acute form of which is known as Weil’s disease) might just have got a whole lot easier. It typically takes three weeks to obtain a positive result in blood culture, and although a PCR-based diagnostic had been developed it was sensitive to an anticoagulant commonly used in blood cultures. The trick here is a new mehod for isolating the bacteria from blood culture specimens in a real clinical setting, implying that a “specific and early diagnosis can be obtained in most cases of severe leptospirosis” in the early stages of the disease.

1. Brute force genomics 10.1038/nature09410
2. Mitochondria and Parkinson’s 10.1126/scitranslmed.3001059
3. Discrimination and mental health 10.2105/AJPH.2009.163147
4. Weil PCR 10.1371/journal.pone.0012095 Open Access