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

retina

Circadian rhythms go both ways: in and from retina

In case you missed it, the 2017 Nobel Prize in Medicine marked the arrival of the flourishing circadian rhythm field. Emory Eye Center’s Mike Iuvone teamed up with Gianluca Tosini at Morehouse School of Medicine to probe how a genetic disruption of circadian rhythms affects the retina in mice.

Removal of the Bmal1 gene – an essential part of the body’s internal clock — from the retina in mice was known to disrupt the electrical response to light in the eye. The “master clock” in the body is set by the suprachiasmatic nucleus, part of the hypothalamus, which receives signals from the retina. Peripheral tissues, such as the liver and muscles, have their own clocks. The retina is not so peripheral to circadian rhythm, but its cellular clocks are important too.

What the new paper in PNAS shows is that removal of Bmal1 from the retina accelerates the deterioration of vision that comes with aging, but it also shows developmental effects – see below.

You might think: “OK, the mice have disrupted circadian rhythms for their whole lives, so that’s why their retinas are messed up.” But the Emory/Morehouse experimenters removed the Bmal1 gene from the retina only.

P. Michael Iuvone, PhD, director of vision research at Emory Eye Center

The authors write: “BMAL1 appears to play important roles in both cone development and cone viability during aging… Cones are known to be among the cells with highest metabolism within the body and therefore, alteration of metabolic processes within these cells is likely to affect their health status and viability.”

More from the official news release:

…Bmal1 removal significantly affects visual information processing and reduces the thickness of inner retinal layers. The absence of Bmal1 also affected visual acuity and contrast sensitivity. Another important finding was a significant age-related decrease in the number of cone photoreceptors (outer segments and nuclei) in mice lacking Bmal1, which suggests that these cells are directly affected by Bmal1 removal.

“When we genetically disrupted the circadian clocks in the retinas of mice, we found accelerated age-related cone photoreceptor death, similar to that in age-related macular degeneration in humans,” Iuvone says. “This loss of photoreceptor cones affects retinal responses to bright light.

“We also noted developmental effects in young mice,” Iuvone continues, “including abnormalities in rod bipolar cells that affected dim light responses. These findings have potential implications for pregnant shift workers and other women with sleep and circadian disorders, whose offspring might develop visual problems due to their mother’s circadian disruption.”

 

 

Posted on by Quinn Eastman in Neuro Leave a comment

Eyes on dopamine

Dopamine-restoring drugs already used to treat Parkinson’s disease may also be beneficial for the treatment of diabetic retinopathy, a leading cause of blindness in adults, researchers have discovered. The results were published recently in Journal of Neuroscience.

Diabetic retinopathy affects more than a quarter of adults with diabetes and threatens the vision of more than 600,000 people in the United States. Doctors had previously thought most of the impairment of vision in diabetic retinopathy came from damage to the blood vessels induced by high blood sugar, but had known that dopamine, a vital neurotransmitter in the brain, was also important in the retina.

“There was some evidence already that dopamine levels were reduced in diabetic retinopathy, but what’s new here is: we can restore dopamine levels and improve visual Ray Ban outlet function in an animal model of diabetes,” says Machelle Pardue, PhD, associate professor of ophthalmology at Emory University School of Medicine and research career scientist at the Atlanta VA Medical Center. Read more

Posted on by Quinn Eastman in Neuro 1 Comment