Latest Trinucleotide repeat disorder Stories
Proteins are the workhorses of the cell, and their correctly folded three-dimensional structures are critical to cellular functions.
The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age.
A new test may help to streamline genetic testing for Huntington Disease (HD) by generating accurate results, avoiding unnecessary additional testing, and improving turnaround time.
Examining trinucleotide repeats
Using a human induced pluripotent stem cell (iPSC) from a patient suffering from Huntington’s disease, researchers at the Buck Institute for Research on Aging have corrected the genetic mutation that is responsible for the disease.
Researchers at the Buck Institute for Research on Aging have corrected the genetic mutation responsible for Huntington's Disease (HD) using a human induced pluripotent stem cell (iPSC) that came from a patient suffering from the incurable, inherited neurodegenerative disorder.
In Huntington's disease, abnormally long strands of glutamine in the huntingtin (Htt) protein, called polyglutamines, cause subtle changes in cellular functions that lead to neurodegeneration and death.
Mayo Clinic and University of Oregon researchers have confirmed that a genetic factor called a repeating trinucleotide is a strong predictor of an individual's risk of developing the eye condition Fuchs' dystrophy.
A Swedish study has shown that people with Huntington’s disease may have protection from cancer. The study also suggests there may be a genetic mechanism in diseases such as Huntington’s capable of fighting off cancer cells.