A recent study has unearthed a surprising linkage between lysosomal mutations and persistent stuttering problems. Back in February 2010, Dr Dennis Drayna, a senior investigator with the National Institute on Deafness and Other Communication Disorders, and his colleagues published findings of mutations in three genes present in almost all of the stuttering members of a large Pakistani family. More recently, researchers at the Washington University School of Medicine in St. Louis have delved deeper into these previous findings and focused on one of the three genes, NAGPA. With this gene alone, three mutations were observed in most of those who stutter that impaired an enzyme responsible for "addressing" proteins to the lysosome. Of these three mutations, two of them were deemed to be future prospects for stuttering therapies, due to the fact that they do not completely impair the function of the affected protein. Since relatively little is known about the brain and which of it's millions of neurons are responsible for what speech patterns, this study seems to be a step forward in understanding not only stuttering, but also how the brain works.
Monday, November 28, 2011
A Step Towards Understanding Your Stutter
A recent study has unearthed a surprising linkage between lysosomal mutations and persistent stuttering problems. Back in February 2010, Dr Dennis Drayna, a senior investigator with the National Institute on Deafness and Other Communication Disorders, and his colleagues published findings of mutations in three genes present in almost all of the stuttering members of a large Pakistani family. More recently, researchers at the Washington University School of Medicine in St. Louis have delved deeper into these previous findings and focused on one of the three genes, NAGPA. With this gene alone, three mutations were observed in most of those who stutter that impaired an enzyme responsible for "addressing" proteins to the lysosome. Of these three mutations, two of them were deemed to be future prospects for stuttering therapies, due to the fact that they do not completely impair the function of the affected protein. Since relatively little is known about the brain and which of it's millions of neurons are responsible for what speech patterns, this study seems to be a step forward in understanding not only stuttering, but also how the brain works.
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I find it odd how a lysosomal protein deficiency could affect something so far removed from it as stuttering. It's even more fascinating that the entire thing is genetic, and not a nervous disorder like many people believe.
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