A strange coincidence led to the identification of a chromosomal abnormality that causes a rare, but often fatal, disorder (Congenital Tufting Enteropathy [CTE]) that affects infants, when Mamata Sivagnanam, M.D., happened to treat two young children with the disease in San Diego – two of perhaps a dozen children in the entire country diagnosed with the disorder. Treating the two patients separately, it was noticed that they both had the same, uncommon last name. It turned out that these two children were what is called double second cousins, meaning that the two mothers are first cousins, and so are the two fathers – sharing a common set of grandparents. The researchers suspected that this was a heritable disease, but these two families – unknown to one another – each had a child with CTE. This unique familial relationship enabled them to isolate the chromosome mutated in the disorder.”

Genes that inhibit the spontaneous development of cancer are called tumor suppressor genes. One of the major tumor suppressors is p53, a protein that acts in the cell nucleus to control the expression of other genes whose products can inhibit cell proliferation (increase in cell number) and cell growth (increase in cell size). Abnormal cell proliferation and growth are characteristics of cancer. Scientists previously knew which p53 target genes inhibit cell proliferation, but those required for inhibition of cell growth were unknown. New work by Michael Karin, Ph.D., and postdoctoral research fellow Andrei V. Budanov, Ph.D., describes the mechanism by which p53 regulates cells and protects them against DNA damage that might lead to cancer.

In a double-blind, placebo-controlled clinical trial led by Ronald J. Ellis, M.D., Ph.D., to assess the impact of smoked medical cannabis, or marijuana, on the neuropathic pain associated with HIV, researchers found that reported pain relief was greater with cannabis than with a placebo. Neuropathy is a chronic and significant problem in HIV patients as there are few existing treatments that offer adequate pain management to sufferers. According to Ellis, the smoked cannabis was generally well-tolerated and effective when added to the patient’s existing pain medication, resulting in increased pain relief.

A study led by Larry R. Squire, Ph.D., sheds new light on how memory and spatial cognition are related to each other in the brain, Researchers at UCSD School of Medicine and the Veteran Affairs (VA) San Diego Healthcare System studied memory-impaired patients as they navigated their environment. Path integration, or the ability of the brain to compute the distance and direction of a traveled path, is an important aspect of spatial cognition – an ability long-thought to be dependent on the medial temporal lobe structures of the brain. However, the researchers discovered that the hippocampus and entorhinal cortex – two major medial temporal lobe structures – are not essential for path integration.

With heart disease maintaining top billing as the leading cause of death in the United States, a team of UCSD physician-researchers is proposing that aggressive intervention to lower cholesterol levels as early as childhood is the best approach available today to reducing the incidence of coronary heart disease. Daniel Steinberg, M.D., Ph.D., and colleagues Christopher Glass, M.D., Ph.D., and Joseph Witztum, M.D., call current approaches to lowering cholesterol to prevent heart disease “too little, too late.” They state that with a large body of evidence proving that low cholesterol levels equate with low rates of heart disease, “...our long-term goal should be to alter our lifestyle accordingly, beginning in infancy or early childhood” and that “…instituting a low-saturated fat, low-cholesterol diet in infancy (7 months) is perfectly safe, without adverse effects…”