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This Week in PNAS: Aug 21, 2018

A University of Pennsylvania-led team reports the Proceedings of the National Academy of Sciences this week that it developed a potential gene therapy for retinitis pigmentosa. The condition has been linked to more than a hundred different mutations in the rhodopsin gene, RHO. The research team combined an shRNA that targets RHO, independent of mutations in it, with a RHO replacement cDNA that is resistant to RNA interference on a single adeno-associated viral vector. When they tested the treatment in a canine model of the disease, the researchers found it prevented photoreceptor cell death and vision loss.

Researchers from the Pasteur Institute and elsewhere report a link between growth stunting and the gut microbiome in PNAS this week. They analyzed the microbial makeup of 46 duodenal and 57 gastric samples from stunted children as well as more than 400 fecal samples from stunted and unaffected children living in the Central African Republic or Madagascar using 16S sequencing. The team uncovered small intestinal bacterial overgrowth in more than 80 percent of the children with stunting and traced this overgrowth to bacteria that's typically found in the oropharyngeal cavity. This suggested to the researchers that stunting might be due to the "decompartmentalization" of the gastrointestinal tract.

Another UPenn-led research compared the genomic coding regions of Plasmodium vivax-like parasites isolated from chimpanzees and gorillas to P. vivax human parasites isolated from malaria-infected humans. P. vivax isolates from African apes and those found in humans from Asia and South America share nearly identical core genomes. This supports the theory that a P. vivax ancestor once infected both humans and apes in Africa before undergoing a population bottleneck and then expansion as it spread outside of Africa. P. vivax infections in humans became rare in Africa due to high prevalence of the Duffy-negative mutation. As the researchers also found no evidence of host-specific barriers, they argue that P. vivax in apes should be monitored as part of disease eradication efforts. GenomeWeb has more on this study, here.