In humans, Huntington's is an inherited disease caused by a gene encoding a toxic protein,
called mutant huntingtin, which causes brain cells to die.
Not exact matches
It is caused by a single gene abnormality which leads to the production of a
mutant form of a protein
called huntingtin (mHtt).
The test,
called a «single molecule counting assay», combines fluorescent antibodies with a laser detection chamber to count individual molecules of
mutant huntingtin with a very low detection threshold.
In July, Elena Cattaneo and her colleagues at the University of Milan reported that
mutant huntingtin affects another key neuron - survival protein
called brain - derived neurotrophic factor (BDNF).
Next, Grima looked at cell death in cultured neurons with a healthy or a
mutant form of
Huntingtin, or with a
mutant form of
Huntingtin that was treated with small amounts of an experimental drug
called KPT - 350, one that prevents a nuclear export protein, Exportin - 1, from shuttling proteins and RNA out of the nucleus.
Huntington's patients have a
mutant form of a protein
called huntingtin that contains between 36 and 120 repeats of the amino acid glutamine, where unaffected individuals have just a couple dozen repeats.
In this study, we employed a method
called optical pulse - labeling, or OPL, which allowed us to see how the
mutant huntingtin ravaged the brain over time — neuron by neuron.»