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Vol. LXII, No. 18
September 3, 2010

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Discovery Opens Door to Possible Treatment of FSH Muscular Dystrophy

Scientists are closer to understanding what triggers muscle damage in one of the most common forms of muscular dystrophy, called facioscapulohumeral muscular dystrophy (FSHD).

FSHD affects about 1 in 20,000 people and is named for progressive weakness and wasting of muscles in the face, shoulders and upper arms. Although not life-threatening, the disease is disabling. The facial weakness in FSHD, for example, often leads to problems with chewing and speaking.

The research was funded in part by NIH and appeared Aug. 20 in the journal Science.

Until now, there were few clues to the mechanism of FSHD and essentially no leads for potential therapies, beyond symptomatic treatments, said Dr. John Porter, a program director at the National Institute of Neurological Disorders and Stroke.

“This study presents a model of the disease that ties together many complex findings, and will allow researchers to test new theories and potential new treatments,” he said.

Outward Knee Alignment Increases Arthritis Risk, Finds NIH-funded Study

People with a particular kind of knee alignment have a greater chance of developing osteoarthritis than do those with other types of leg alignment, reported researchers supported by NIH.

The study authors found that the higher risk occurred among those with an outward-facing alignment—knees relatively far apart and ankles closer together. Known as varus alignment, the knee configuration resembles bowleggedness, but is not as extreme.

Osteoarthritis results from the deterioration of cartilage, the hard, slippery material that cushions the ends of bone at the joints. The condition causes pain and often results in disability. According to the Centers for Disease Control and Prevention, osteoarthritis of the knees affects 6.1 percent of all adults over age 30.

The current finding, from a 2½-year study of nearly 3,000 people, may lead to the development of new ways to prevent osteoarthritis of the knee or lessen its symptoms.

The researchers also confirmed earlier findings that for people who have arthritis, varus alignment as well its opposite, the valgus, or inner facing, alignment contribute to worsening of the condition on the side of the knee bearing more stress.

The study was published online in Annals of the Rheumatic Diseases.

Researchers Uncover Early Step in Brain Event Cascade Leading to Addiction

Researchers Uncover Early Step in Brain Event Cascade Leading to Addiction

A regulatory protein best known for its role in a rare genetic brain disorder also may play a critical role in cocaine addiction, according to a recent study in rats, funded by the National Institute on Drug Abuse. The study was published Aug. 16 in the journal Nature Neuroscience.

Researchers at the Scripps Research Institute in Jupiter, Fla., found that cocaine consumption increased levels of a regulatory protein called MeCP2 that shuttles back to the nucleus to influence gene expression in the brains of rats. As levels of MeCP2 increased in the brain, so did the animals’ motivation to self-administer cocaine. This suggests that MeCP2 plays a crucial role in regulating cocaine intake in rats and perhaps in determining vulnerability to addiction.

“This discovery, using an animal model of addiction, has exposed an important effect of cocaine at the molecular level that could prove key to understanding compulsive drug taking,” said NIDA director Dr. Nora Volkow. “It should open up new avenues of research on the causes and ways to counter the behavioral changes linked to addiction in humans.”

This is the second time this year that a critical factor related to cocaine self-administration in rodents has been identified. In a study published in July in the journal Nature, Scripps researchers identified regulatory molecule miRNA-212 as playing a key role in cocaine intake. However, MeCP2 increased motivation for cocaine, whereas miRNA-212 had the opposite effect, suggesting that the latter plays a protective role against drug seeking.

Gene Causing Kabuki Syndrome Discovered

Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.

Kabuki syndrome, which has an estimated incidence of 1 in 32,000 births, was originally described by Japanese scientists in 1981. Patients with the disorder often have distinct facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form.

The work, published Aug. 15 in the online edition of Nature Genetics, was carried out by scientists at the University of Washington in Seattle as part of a larger effort to use “second generation” DNA sequencing technologies in new ways to identify genes for rare disorders. The project is funded by a $3.9 million American Recovery and Reinvestment Act grant from the National Human Genome Research Institute.

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