Science and Medicine

New Urine Test Could Diagnose Eye Disease

“I knew from my previous experience in analyzing urine samples from liver disease patients that I can readily detect dolichols by liquid chromatography and mass spectrometry,”

You might not think to look to a urine test to diagnose an eye disease.

But a new Duke University study says it can link what is in a patient’s urine to gene mutations that cause retinitis pigmentosa, or RP, an inherited, degenerative disease that results in severe vision impairment and often blindness. The findings appear online in the Journal of Lipid Research.

“My collaborators, Dr. Rong Wen and Dr. Byron Lam at the Bascom Palmer Eye Institute in Florida first sought my expertise in mass spectrometry to analyze cells cultured from a family in which three out of the four siblings suffer from RP,” said Ziqiang Guan, an associate research professor of biochemistry in the Duke University Medical School and a contributing author of the study.

Guan’s collaborators had previously sequenced the genome of this family and found that the children with RP carry two copies of a mutation at the dehydrodolichol diphosphate synthase (DHDDS) gene, which makes the enzyme that synthesizes organic compounds called dolichols. In humans, dolichol-19, containing 19 isoprene units, is the most abundant species.

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How High Blood Sugar Throws off Heart Rhythm

“While scientists have known for a while that CaMKII plays a critical role in normal cardiac function, ours is the first study to identify O-GlcNAc as a direct activator of CaMKII with hyperglycemia.”

Scientists have identified a biological pathway—activated by abnormally high blood sugar levels—that causes irregular heartbeats.

This condition is known as cardiac arrhythmia and is linked with heart failure and sudden cardiac death.

Reported online in the journal Nature, the discovery helps explain why diabetes is a significant independent risk factor for heart disease.

“The novel molecular understanding we have uncovered paves the way for new therapeutic strategies that protect the heart health of patients with diabetes,” said Donald Bers, chair of the pharmacology department at University of California, Davis and senior author of the study.

While heart disease is common in the general population, the risk is up to four times greater for diabetics, according to the National Institutes of Health. The American Heart Association estimates that at least 65 percent of people with diabetes die from heart disease or stroke and has emphasized the need for research focused on understanding this relationship.

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Why Sleepy Brains Crave Doughnuts

“These results shed light on how the brain becomes impaired by sleep deprivation, leading to the selection of more unhealthy foods and, ultimately, higher rates of obesity.”

We’re more likely to have an appetite for junk food when we’re sleep deprived and brain scans may help explain why.

Using functional magnetic resonance imaging (fMRI), researchers scanned the brains of 23 healthy young adults, first after a normal night’s sleep and then after a sleepless night. They found impaired activity in the sleep-deprived brain’s frontal lobe, which governs complex decision-making, but increased activity in deeper brain centers that respond to rewards.

When they were sleep-deprived, participants favored unhealthy snacks and junk food.

“What we have discovered is that high-level brain regions required for complex judgments and decisions become blunted by a lack of sleep, while more primal brain structures that control motivation and desire are amplified,” said Matthew Walker, professor of psychology and neuroscience at the University of California, Berkeley. “High-calorie foods also became significantly more desirable when participants were sleep-deprived. This combination of altered brain activity and decision-making may help explain why people who sleep less also tend to be overweight or obese.”

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