NEW GENE FINDINGS POINT TO
BRAIN CELL TYPE IN STUTTERING
In a study recently posted in MedRXive, Dr. Dennis Drayna and colleagues report research findings that support a role for a particular brain cell type called astrocytes in stuttering. The story began more than a decade ago, when their team found evidence for the existence of a gene that caused stuttering in many members of a large Pakistani family. This gene was located on chromosome 3, but the identity of the causative gene at this location proved elusive. With continued research, a subtle mutation in a gene called ZBTB20 was identified, and solid evidence gradually developed that this mutant gene was the cause of stuttering in this family. The gene is called ZBTB20. This gene encodes a so-called transcription factor, and it regulates the expression of other genes.
Dr. Drayna explained: “All the cells in our body have the same DNA. So why, for example, is a bone cell so different from a liver cell, or any of the other cell types we have? The answer lies in
8
which of the genes in our DNA are turned on and which are turned off. The process of turning on just the right genes required to make a particular cell type is done by transcription factors. As you might guess, transcription factors are essential for the development of the organs and particular cell types in our bodies.”
In work done by many researchers, ZBTB20 has long been known to control the development of astrocytes, an important cell
type in the brain. This was
particularly interesting because, In previous work, Dr. Drayna’s group engineered mutations found in human stuttering into mice, and then showed that the mice carrying these mutations displayed alterations in their vocalization that are similar to some features of human stuttering. While these mice were apparently normal in most features, a detailed analysis of the brains of these mice showed marked deficits in astrocytes.
Dr. Drayna noted: “While this result implicating astrocytes was intriguing and suggestive, it was found
SFA RESEARCH: UNDERSTANDING STUTTERING
Page 1 |
Page 2 |
Page 3 |
Page 4 |
Page 5 |
Page 6 |
Page 7 |
Page 8 |
Page 9 |
Page 10 |
Page 11 |
Page 12 |
Page 13 |
Page 14 |
Page 15 |
Page 16 |
Page 17 |
Page 18 |
Page 19 |
Page 20 |
Page 21 |
Page 22 |
Page 23 |
Page 24 |
Page 25 |
Page 26 |
Page 27 |
Page 28 |
Page 29 |
Page 30 |
Page 31 |
Page 32 |
Page 33 |
Page 34 |
Page 35 |
Page 36 |
Page 37 |
Page 38 |
Page 39 |
Page 40 |
Page 41 |
Page 42 |
Page 43 |
Page 44 |
Page 45 |
Page 46 |
Page 47 |
Page 48 |
Page 49 |
Page 50 |
Page 51 |
Page 52 |
Page 53 |
Page 54 |
Page 55 |
Page 56
