muscle

Sugar Molecule Could Resolve Rare Diseases

IRP Research Hastens Development of First Treatment for Genetic Muscle Condition

cartoon highlighting one person in a crowd

An old medical adage warns doctors that when they hear hoofbeats, they should first think of horses, not zebras. After all, when someone comes into the hospital with a cough, the most likely explanation is something mundane like the flu. However, some patients truly are medical zebras, affected by a disease that afflicts very few others.

IRP senior investigator Marjan Huizing, Ph.D., has learned quite a bit about those zebras since arriving at the National Human Genome Research Institute (NHGRI) as a postdoctoral fellow in 1998. To help commemorate Rare Disease Day today, Dr. Huizing spoke with the “I Am Intramural” blog about her research on an array of ailments linked to a small sugar molecule called sialic acid, some of which are extremely rare.

Languishing Cellular Batteries Foretell Movement Problems

Prediction Method Could Help Prevent Age-Related Physical Decline

burned out lightbulb

Throughout human history, people have sought insight into their fates from self-proclaimed psychics and other dubious fortune tellers. Fortunately, scientists are increasingly developing more reliable, data-driven ways to predict the future. For instance, IRP researchers recently showed that an assessment of the cellular batteries that power our muscles can predict the deterioration of physical abilities in older adults.

A New View of How Muscles Move

IRP Research Challenges Long-Held Ideas About Muscle Structure

sprinter starting to run

It’s not every day an accidental observation overturns 100 years of biological knowledge. But that’s what happened when IRP Stadtman Investigator Brian Glancy, Ph.D., noticed something funny while reviewing high-definition 3D videos of muscle cells.

“To be honest, you could almost call this study an accident,” he says.

Dr. Glancy, who leads the National Heart, Lung, and Blood Institute (NHLBI)’s Muscle Energetics Lab, often uses the high-powered microscopes available through the NHLBI Electron Microscopy Core to study how energy is distributed through skeletal muscle cells — the ones that control voluntary movement — when they expand and contract.

Although he was focused on examining the cells’ energy-producing mitochondria, he could also see the other structures inside them, including the long, tube-like structures called myofibrils that are involved in muscle contraction. As he advanced the video and traveled down the length of the muscle, it looked to him like the myofibrils were changing shape.

Experimental Compound Supercharges Cellular Power Plants

Treatment Approach Could Combat Obesity and Its Consequences

light bulb

When your phone or laptop is low on power, you simply connect it to a charger and find the nearest electrical outlet, but the process of restoring lagging energy production in our cells is not nearly as simple. However, a new IRP study has identified a promising approach for doing just that, which could lead to new treatments for obesity and related metabolic ailments like heart disease and diabetes.

Muscle Enzyme Explains Weight Gain in Middle Age

Reblogged from The NIH Director’s Blog.

using a weight scale

The struggle to maintain a healthy weight is a lifelong challenge for many of us. In fact, the average American packs on an extra 30 pounds from early adulthood to age 50. What’s responsible for this tendency toward middle-age spread? For most of us, too many calories and too little exercise definitely play a role. But now comes word that another reason may lie in a strong—and previously unknown—biochemical mechanism related to the normal aging process.

Exercise Releases Brain-Healthy Protein

Reblogged from the NIH Director's Blog.

Five images of different exercise activities

We all know that exercise is important for a strong and healthy body. Less appreciated is that exercise seems also to be important for a strong and healthy mind, boosting memory and learning, while possibly delaying age-related cognitive decline. How is this so? Researchers have assembled a growing body of evidence that suggests skeletal muscle cells secrete proteins and other factors into the blood during exercise that have a regenerative effect on the brain.