GENETIC MUTATIONS MAY EXPLAIN SIDS RACIAL DIFFERENCES
Researchers say genetic mutations that affect the autonomic nervous system play a role in sudden infant death syndrome. These mutations also may explain why SIDS prevention efforts have been less successful among African-Americans. Researchers at Rush University Medical Center and the University of Pittsburgh compared genetic material from 92 SIDS babies and 92 control subjects, finding 11 different protein-changing rare mutations in 14 of the 92 SIDS cases. They found only one such mutation in two of the 92 control cases. Of the 15.2 percent of SIDS babies with one of these mutations, 71 percent were African-American babies. "Tragically, infants of all ethnic groups continue to succumb to SIDS despite many parents demonstrating full compliance with known modifiable risk factors. (Our study) represents further refinement of the genetic profile that might place and infant at increased risk for SIDS," the researchers wrote. This study appears in the September issue of Pediatric Research.
GENE LINKED TO CLEFT LIP, PALATE
A newly identified gene variant has been linked to oral clefts and triples the risk of recurrence in affected families. March of Dimes-funded researchers from the University of Iowa, University of Antioquia in Medellin, Colombia, and ECLAMC in Brazil linked interferon regulatory factor 6 variants to cleft lip and palate defects in a broad population. The researchers said a strength of the study was its findings came from a variety of ethnic groups, including Europeans, South Americans and Asians. "This gives us confidence that the linkage of this gene variant to oral clefts is true across different populations in the U.S. and worldwide," they wrote. Cleft lip, with and without cleft palate, occurs in about 1 in every 1,000 births in the United States each year. Children with oral clefts experience difficulty in chewing, swallowing and speaking, and are prone to frequent ear infections. This new discovery was reported in the New England Journal of Medicine on Aug. 19.
RESEARCHERS TRACK DOWN ELUSIVE LUPUS GENE
A gene variation has been linked to systemic lupus erythematosus for the first time. University of Minnesota researchers found the gene variation, known as PTPN22, is found in 23 percent of lupus patients compared to 16 percent of healthy Caucasians in the United States. PTPN22 previously was associated with risk for Type 1 diabetes and rheumatoid arthritis. "This appears to be a very important gene for lupus, and this is the first time we have identified a variant that predisposes to many different autoimmune diseases," the authors wrote. "We hope that this discovery will lead to the identification of other genes associated with lupus and other immune diseases." The researchers believe dozens of genes may play a part in lupus, and that discovering how these genes work together will be important to developing better diagnosis and treatment of the disease. This study appears in the September issue of the American Journal of Human Genetics.
RORA -- GENETIC GEAR THAT KEEPS THE BODY CLOCK TICKING
A study combining genomic, biochemical and behavioral approaches has uncovered a new clock gene, called "Rora." Scientists from the Scripps Research Institute and the Genomics Institute of the Novartis Research Foundation made the discovery, which someday could help people with jet lag, night shift workers and people with more serious sleep disorders. Rora activates a feedback loop in the body's circadian clock that keeps the body entrained to a 24-hour day. Knowing that Rora is a component of the mammalian clock is significant because it may provide a valuable target for the development of compounds to correct sleep disorders, many of which are tied to circadian rhythms. This research appeared in the Aug. 19 issue of the journal Neuron.
RARE MUTATIONS INCREASE HEART DISEASE RISK
Rare gene mutations can lead to low levels of good cholesterol in the blood, increasing heart disease risk. Howard Hughes Medical Institute researchers investigated levels of high density lipoprotein, the good cholesterol, in 128 subjects from the Dallas Heart Study. They compared the genes of people with HDL levels in the lowest 5 percent of the population to those with HDL levels in the top 5 percent. "The value of the approach is that you not only get the common variations, but you can address whether individual rare genotypes also contribute to phenotype," the study said. Investigators focused on three genes implicated in rare forms of HDL deficiency: APOA1, ABCA1, and LCAT. Variations in these genes were found in 16 percent of the individuals with low HDL levels, and in only 2 percent of those with high HDL. The researchers believe the results provide direct evidence that rare DNA variations significantly affect levels of HDL in the blood, considerably increasing an individual's risk for heart disease. This research appeared in the Aug. 6 issue of the journal Science.
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(EDITORS: For SIDS, contact Chris Martin at (312) 942-7820 or [email protected]. For CLEFT, contact Michele Kling at (914) 997-4613 or [email protected]. For RORA, contact Keith McKeown at (858) 784-8134 or [email protected]. For HEART, contact Jennifer Michalowski at (301) 215-8576 or [email protected])
