The genetic reasons of a stammering ...

The American scientists have found out the genetic reasons of a stammering. The report on the research spent by group of experts under the guidance of Dennis Drayna from National institute of deafness and speech disturbances (National Institute on Deafness and Other Communication Disorders), is published in New England Journal of Medicine.

Having studied genomes almost 400 patients, suffering a stammering, researchers have found out a mutation of gene GNPTAB in ten percent of volunteers. This gene is located in 12th chromosome and codes enzyme N-N-N-Natrii phosphas a transferase (GNPT) cellular structures (lysosomes) which provide digestion of substances arriving in a cell.
Similar genetic disturbances have been taped at one of 192 pakistanis from control group. Among 552 inhabitants of the USA, not suffering a stammering, mutation GNPTAB have not been found out.

At stammering volunteers scientists have taped three more mutations of gene GNPTAB which did not meet among members of control group. Besides, during research at patients suffering by a stammering have been found out on three mutations of genes GNPTG and NAGPA which also regulate synthesis and function of enzyme GNPT.

Researchers have noticed, that the disadvantage of this enzyme is the reason of disorders development which is shown by neurologic disturbances, and also developmental anomalies of osteal and connecting tissues.

According to Drayna, the genetic disorders causing shortage GNPT, are treated by a restore of a disadvantage of this enzyme. During the further researches scientists whant to find out, whether similar methods to be used for stammering treatment.

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