Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more
•••

chronic fatigue syndrome

How much does idiopathic hypersomnia overlap with ME/CFS?

In everyday linguistic usage among non-specialists, sleepiness can blend together with tiredness and fatigue. Someone might feel “tired” after climbing a mountain or chopping down a tree, while “sleepiness” is different. Emory sleep scientists explore the pathological distinctions in a paper published in Journal of Sleep Research.

A team led by neurologists Lynn Marie Trotti and David Rye has been studying idiopathic hypersomnia (IH) for several years: people who experience excessive daytime sleepiness and “sleep drunkenness,” not explained by other medical conditions.

IH’s symptoms don’t usually include persistent muscle pain or a severe response to exertion. This separates the disorder from myalgic encephalomyelitis, also known as chronic fatigue syndrome (ME/CFS). But there is some overlap, which is what neurology resident Caroline Maness, Trotti and colleagues report in the new paper. The authors use the official term SEID (systemic exertion intolerance disease), which was recommended by an Institute of Medicine panel in 2015, but hasn’t really stuck among those in the ME/CFS field.

Some people with IH have disclosed that they were previously diagnosed with ME/CFS. Outside of the sleepy vs tired issue, some people with IH report symptoms shared with ME/CFS, such as impaired circulation in their extremities in response to cold, or dizziness upon standing. Speculatively, this may point to a possible problem with the autonomic nervous system. Trotti and a collaborator at Stanford, Mitchell Miglis, are now examining this issue further.

ME/CFS has had a history of controversy. Despite its devastating impacts, some have viewed it as psychological or somehow unreal, and sufferers have felt neglected or maligned by mainstream medicine. The National Institutes of Health has made efforts to turn that situation around by investing in ME/CFS research, and there has been a surge of attention recently covering ME/CFS (Amy Maxmen items in Nature, Stanford magazine feature, Unrest documentary).

Trotti, Maness and colleagues didn’t set out to dive into ME/CFS – they explicitly label this paper a pilot study, and the results say more about the “hypersomnolent” group of patients they have been seeing for the last several years, rather than the broader ME/CFS population. Read more

Posted on April 16, 2018 by Quinn Eastman in Neuro Leave a comment

A family of troublemakers known as XMRV

A long-delayed paper on the connection between chronic fatigue syndrome and XMRV (xenotropic murine leukemia virus-related virus) finally surfaced last week in PNAS. Astute readers may recall that XMRV has also been linked to prostate cancer.

Detecting XMRV in prostate tissue. A variety of assays (neutralizing antibodies, polymerase chain reaction or fluorescence in situ hybridization) may be used to look for XMRV

The twist from last week’s paper is that the NIH/FDA team, led by Harvey Alter, didn’t find viruses all with the same sequence in chronic fatigue patients. Instead, they found a cluster of closely related, but different, viruses. While confusing, these results may explain why tests for the presence of the virus that are based on viral DNA sequences may have generated varying (and conflicting) results. An alternative assay based on antibodies, such as the one urologist John Petros and colleagues at Emory developed, may be useful because it casts a wider net.

Pathologist Hinh Ly has been diving into the XMRV field, with a recent paper in Journal of Virology describing what “gateway” (receptor) molecule the virus uses to sneak into cells and what kinds of cells in the prostate it can infect.

In a collaboration with Ila Singh at the University of Utah, antiviral drug expert Raymond Schinazi has found that a number of drugs active against HIV also stop XMRV. This offers some hope that if doctors can detect members of the XMRV family, and figure out what they’re up to, they might be able to combat the troublemakers as well.

Posted on September 2, 2010 by Quinn Eastman in Uncategorized Leave a comment