Huntington’s disease (HD) is a rare inherited disease that causes the degeneration of nerve cells in the brain. This degeneration triggers a variety of symptoms affecting cognition, movements, and speech.
Sufferers usually have a shortened life expectancy and often die from life-threatening complications relating to the disease. HD is currently incurable.
A recent study published by the Cedars-Sinai Medical Center, Los Angeles suggests that a cure for Huntington’s disease may not be far away. The researchers have used pluripotent stem cells to obtain valuable information about the progression of Huntington’s. This information will help researchers develop pathways for future treatments.
Scientists had previously discovered that HD was caused by a repetition of the “CAG” triplet series in the huntingtin (HTT) gene. This abnormality causes proteins with a long polyglutamine sequence. They found that the more extended a patient’s CAG repeats were, the more severe their symptoms and the more rapid the onset of the disease.
In this new trial, scientists used induced pluripotent stem cells (iPSC) created from five cell lines generated from juvenile HD, along with five controls. The stem cells were used to create a model showing how the part of the brain most affected by HD developed.
As lead investigator Dr. Virginia B. Mattis explains how this model is useful, saying: “Before the discovery of embryonic stem cells, only post-mortem human brain tissues were available for us to study, limiting investigation of the developmental pathophysiology of the disease. However, with the use of iPSC, somatic cells reprogrammed to embryonic state, means it is possible to focus on the origins of HD in human brain tissues generated in vitro.”
The researchers can follow precisely how the HD affected brain develops, allowing them to pinpoint changes in the brain. They have already learned some valuable information about how juvenile onset HD changes the brain.
Source: Stem cell research leads to insights into how Huntington’s disease develops
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