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Vol. LXII, No. 17
August 20, 2010
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Digest

Mapping Study Finds Largest Set of Genes Tied to Major Risk Factor for Heart Disease

Scanning the genomes of more than 100,000 people from all over the world, scientists report they have discovered the largest set of genes underlying high cholesterol and high triglycerides— the major risk factors for coronary heart disease, the nation’s number one killer. Taken together, the gene variants explain between a quarter and a third of the inherited portions of cholesterol and triglyceride measured in the blood. The research, representing scientists from 17 countries, appeared in two papers in the Aug. 5 issue of Nature.

NHLBI is the lead funder of the research, with additional support from NHGRI, NIA and several other NIH components. Genome-wide association studies, or GWAS, analyze DNA across populations to pinpoint hard-to-find genetic hotspots for common diseases that are thought to have many causes, both genetic and environmental. Previous gene-scanning approaches have turned up hints about the nature of inherited heart disease risk. The new results take science well beyond what was previously known, and pinpoint research directions to elucidate the molecular and cellular mechanisms by which genetic variants contribute to disease.

“Genetic studies that survey a wide variety of human populations are a powerful tool for identifying hereditary factors in health and disease,” said study co-author and NIH director Dr. Francis Collins. “These results help refine our course for preventing and treating heart disease, a health problem that affects millions of Americans and many more people worldwide.”

Researchers Make Progress Toward Regenerating Tissue to Replace Joints

NIBIB-supported research repairing damaged bone and cartilage by recruiting host cells within a living animal could help pave the way for advanced treatment of arthritis and other diseases in humans.
NIBIB-supported research repairing damaged bone and cartilage by recruiting host cells within a living animal could help pave the way for advanced treatment of arthritis and other diseases in humans.

A team of NIH-funded researchers successfully regenerated rabbit joints using a cutting-edge process to form the joint inside the body, or in vivo.

Regenerative in vivo procedures are performed by stimulating previously irreparable organs or tissues to heal themselves. In this study, bioscaffolds, or three-dimensional structures made of biocompatible and biodegradable materials in the shape of the tissue, were infused with a protein to promote growth of the rabbit joint. The experiment demonstrated the feasibility of an approach to growing dissimilar tissues, such as cartilage and bone, derived entirely from the host’s own cells. Results of the study appeared in the July 29 issue of The Lancet.

Regeneration activity relied on the host’s supply of cells to the joint, local tissue response and functional stimulation to recreate the entire surface of the joint cartilage together with the bone. The approach sidesteps problems encountered in transplantation of cells grown ex vivo, such as immunological rejection, pathogen transmission and potential formation of tumors.

“The potential for in vivo tissue regeneration is enormous,” says Dr. Christine Kelley, director of NIBIB’s Division of Discovery Science and Technology. “[This team’s] work with repairing damaged bone and cartilage by recruiting host cells within a living animal could help pave the way for advanced treatment of arthritis and other diseases in humans.”

The work was supported by grants from NIBIB and New York State Stem Cell Science.

Grantees Generate Mature Egg Cells from Early Ovarian Follicles

Researchers supported by NICHD have for the first time activated mouse egg cells at the earliest stage of their development and brought them to maturity. In a related experiment, the researchers replicated the finding by also bringing human eggs to maturity in the laboratory.

Current infertility treatment techniques stimulate immature eggs so they develop to the stage at which the eggs can be fertilized, but these techniques work only on eggs at a comparatively late stage of development. These later-stage eggs are few in number and much more difficult to recover than the early-stage eggs used by the researchers in this study. Using the new technique, the researchers brought dormant mouse eggs to full maturity within the laboratory. The eggs then were fertilized and transferred into female mice, which carried them to term.

The human eggs were not fertilized. The technique is still in its early stages, has not been sufficiently studied for human use and will require several more years of study.

According to the researchers, one day this technique could be used to treat female infertility, particularly forms of infertility in which the supply of available eggs is diminished or limited. Similarly, the technique could be combined with efforts to bank the ovarian tissue of women in need of cancer therapy that might cause infertility.

The findings appeared online Aug. 4 in the Proceedings of the National Academy of Sciences.

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