Not exact matches
Not long after the HD gene was isolated, studies led by MacDonald,
also a co-author of the current investigation, found that a variation in the number of CAG trinucleotide repeats within the HD gene, which codes for a
protein called
huntingtin, is the primary determinant of the age at which HD symptoms appear, with a greater number of CAG repeats associated with an earlier symptom onset.
«We already know from previous studies on the
protein huntingtin, which spontaneously forms aggregates and is responsible for the development of the neurodegenerative disorder Huntington's disease, that
protein aggregates
also bind to essential
proteins that have no defects.»
At the same point in the disease process, the scientists found no evidence of impairment in liver cells, which
also produce the mutated
huntingtin protein.
Grima
also observed this same clumping of
Huntingtin protein with RanGAP1 and nuclear pore
proteins to the wrong place in the cell in brain tissue and cultured brain cells derived from deceased patients with Huntington's disease.
The Max Planck scientists could
also show that a toxic
protein related to the abnormal, aggregate - forming
protein «
huntingtin» of patients with the neurodegenerative Huntington's disease is efficiently destroyed by the newly identified pathway.
One of the most exciting avenues of HD research is
huntingtin lowering (
also known as gene silencing), which aims to reduce levels of the
huntingtin protein in cells.
Some of these approaches to attack mutant
huntingtin also reduce levels of the normal
protein, including the Ionis
huntingtin - lowering drug.
Current
huntingtin - lowering drugs, called ASOs, are
also given as individual doses separated by several weeks, with normal
protein production expected to bounce back somewhat in between.