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<\/a>The patient was just two months old, deaf, blind, and covered in thick, leathery, cracked skin. And he had odd, disordered breathing that left his oxygen levels too low. He had been referred to UConn Health for his skin condition, but neonatal research director Naveed Hussain was startled by the baby\u2019s breathing troubles. Premature babies often have trouble breathing, but two-month-olds rarely do.<\/p>\n
Hussain began searching for information about the baby\u2019s mutation, which was at a spot on the genome called connexin26. Related mutations are known to result in deafness, blindness, or skin trouble. But no one had ever reported disordered breathing, at least not in humans. So Hussain began reading about animals with connexin mutations. Which is how he discovered that Daniel Mulkey, a UConn associate professor of physiology and neurobiology, had looked at just this type of mutation-related breathing disruption in rats. Hoping that Mulkey might be able to suggest a therapy for the patient, Hussain picked up the phone.<\/p>\n Mulkey was intrigued. He knew that a common connexin mutation blocked expression of the protein altogether. Having one copy of that mutation is a common cause of inherited deafness; having two copies is lethal in utero. But Hussain\u2019s patient had one normal copy, and one connexin26 mutation. So why was he in such bad shape?<\/p>\n Mulkey asked Nick Dale, an expert on connexin protein at the University of Warwick, UK, to express the connexin26 mutation in human astrocytes. Astrocytes are the most abundant cells in the brain and do many things, including signaling to neurons. Dale found that astrocytes with the connexin26 mutation couldn\u2019t bind to carbon dioxide. This specific connexin mutation was dominant, and suppressed expression of the normal protein. Such mutant cells were oblivious to dangerously high carbon dioxide levels, and this almost certainly explained the baby\u2019s disordered breathing. It was also the first time a direct link between the connexin channel, carbon dioxide, and respiration had been shown in humans.<\/p>\n While Dale and Mulkey were looking at the mutation\u2019s effect on human cells, Hussain began to review recordings of the breathing patterns of his patient, trying to see if there was anything that could give advance warning of a bad breathing episode. There\u2019s not much in the medical literature about the breathing patterns of newborn infants, and Hussain and his colleagues began to wonder if they were even looking at the right things. He invited Mulkey and Xinnian Chen, a UConn assistant professor-in-residence in physiology and neurobiology who specializes in biosignal processing, to examine the recordings.<\/p>\n<\/a><\/a>