Gene Messengers, Rather Than Genes, May Provide Best Disease Clues

Genes can be expressed in different ways depending on how cells process their messengers, aka splicing isoforms. Genetic mutations can damage some splicing isoforms but not others. UC San Diego School of Medicine researchers found that splicing isoforms hit by autism-associated mutations are highly expressed in the fetal brain, and may be important for development. The team concluded that disease-causing mutations should be studied at the splicing isoform level, rather than at the gene level.