Genes show the way

American researchers have deciphered the role genes play in three cases: breast cancer, Noonan syndrome (NS) and septic shock sensitivity.

Researchers from the University of California, San Francisco, have identified the gene GATA–3 as having a role in the development of breast cancer. This gene is vital for mature mammary cells to retain their maturity in the adult. In the study, conducted on adult mice, they found that when activity of GATA–3 was halted, the cells primarily involved in breast cancer regressed to a state distinctive of metastatic cancer. They multiplied uncontrollably and then died. This new study has helped researchers to understand why breast cancer patients with high GATA–3 expression do better than those with low expression.

While mutations in the PTPN11 gene and KRAS oncogene have been identified as causes for Noonan syndrome, scientists have now recognized mutations in the gene SOS1 as causing NS in certain cases. The findings were based on a study of the genetic analysis of more than 100 children suffering from NS but who did not have either of the known mutations as the cause. Mutations of SOS1 were found in about 20 per cent of the cases. When the scientists tested on mammalian cells, they found that, like the PTPN11 mutations, it encouraged the activities of RAS and MAP kinase. The researchers hope that their findings will aid prenatal diagnosis and genetic counseling for NS.

Also, researchers from New York have isolated the gene that makes some people more susceptible to septic shock. A septic shock is characterized by "cytokine storm," an uncontrollable surge of immune system components. This rush of immune system components destroys vital organs rather than destroying bacteria. Researchers have identified AUF1 as the gene that switches off the rush of immune system components. However, its level of activity differs from person to person, making some people more susceptible to septic shock. Having identified the gene, the researchers believe that now drugs can be developed to control its activity.

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