Sentences with phrase «triplet repeat»
The length of this «triplet repeat expansion» determines the degree of gene silencing, and thus the severity of the disease.
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«In the transition from skin cells to stem cells, and then as the stem cells grew in culture and divided to produce their own daughter stem cells, the triplet repeat expansions within FXN became longer,» said Ku.
«We've known that in other triplet repeat expansion diseases, such as Huntington's disease, DNA repair enzymes are somehow involved in generating the expansion,» said Joel M. Gottesfeld, a professor at The Scripps Research Institute, and the study's senior author.
The study lends support to a general hypothesis for triplet repeat expansion diseases.
After creating a stem cell model of the disease from patients» skin cells, the Scripps Research scientists found strong evidence for the involvement of a DNA repair enzyme in the FXN triplet repeat expansion.
In addition to Gottesfeld and Ku, authors of the study, «Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA * TTC triplet repeat instability,» were Elisabetta Soragni, Erica Campau, Elizabeth A. Thomas, Gulsah Altun, Louise C. Laurent, and Jeanne F. Loring of Scripps Research; and Marek Napierala of the University of Texas M. D. Anderson Cancer Center.
It's also the first time that anyone has created a model system to study the triplet repeat expansion phenomenon in patients» own genes.»
Cell biology chair Gary Bassell was interested in the disease, because it's a triplet repeat disorder, similar to fragile X syndrome, yet the CNS mechanisms and symptoms are very different.
Evidence that the protein aggregation in the nucleus can indeed cause the neurodegeneration seen in these triplet repeat diseases comes from work appearing in the tomorrow's Cell.
The suite of new findings provides a critical window on the mechanism for CJD and similar triplet repeat diseases like Huntington's.
Fragile X occurs when a segment in the FMR1 gene on the X chromosome called the CGG triplet repeat is lengthened from the normal 5 to 40 repeats to 200 repeats in people with full mutation FXS.
In another experiment, he found evidence that the enzyme had bound to the FXN gene close to the triplet repeats.