Researchers studying the common genetic disorder chromosome 22q.11 deletion syndrome have identified key proteins that act together to regulate early embryonic development. One protein is essential to life; in animal studies, embryos without the protein do not survive past the first few days of gestation.
Although the findings do not currently affect treatments for chromosome 22q.11 deletion syndrome, they shed light on the biological events that give rise to the syndrome, which often includes congenital heart defects. They also reveal the previously unsuspected importance of one protein in the earliest stages of development.
"The heart is among the first organs to develop in humans and other mammals," said neonatologist Jason Z. Stoller, M.D., of The Children's Hospital of Philadelphia, corresponding author of the study, appearing online today in the May issue of the journal Experimental Biology and Medicine. Stoller collaborated with Jonathan A. Epstein, M.D., scientific director of the Penn Cardiovascular Institute at the University of Pennsylvania, and senior author of the study.
Chromosome 22q.11 deletion syndrome, also known as DiGeorge syndrome, is the most common human disorder caused by a missing chromosome region, occurring at least once in 4,000 live births. It can vary in severity, but may affect many parts of the body, with symptoms including heart defects, immune and endocrine problems, cleft palate, gastrointestinal conditions, growth delay and neuropsychiatric abnormalities. The 22q and You Center at Children's Hospital is an international leader in clinical care and research in this syndrome, providing multidisciplinary evaluation and treatment for hundreds of patients from over 40 states and 15 countries.
Because of structural instability in a portion of chromosome 22, one region may be deleted, typically containing 30 genes. One of those genes, TBX1, holds the genetic code for a type of protein called a tr
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Children's Hospital of Philadelphia