Not exact matches
The study, which is published in the journal Molecular Psychiatry, describes a possible mechanism for how the
gene variant produces clinical
symptoms by
affecting levels of specific proteins in the brain.
Affected individuals do not have a disease: they only carry 1 copy of a hemoglobin
gene variant, and unlike individuals with 2 copies of the variant, they do not experience
symptoms.
«In this study we weren't looking at how repressing the
gene activity
affected the
symptoms of the disease and this is obviously a critical question as well.
To find out whether how these changes
affected people with the Huntington's
gene before clinical
symptoms begin, Julie Stout of Monash University in Melbourne, Australia, and colleagues selected 119 people who had the
gene but no
symptoms.
This means
affected individuals receive a flawed
gene from each parent in order to have
symptoms.
NMD also ensures that many mutations in our
genes do not cause any disease
symptoms — as long as the second copy of the
gene affected is still intact and thus a correct version of the body plan is available.
Over the following years, he and his colleagues cloned the HD
gene, located its stretch of repeated DNA, showed that the size of that stretch is correlated with age of disease onset and age of death, described how it causes disease, and identified genetic factors that
affect how quickly
symptoms develop.
The researchers said their finding could lead to new treatments that might help ease
symptoms of menopause, but more research is needed to understand how other rare
gene variants could
affect hot flashes.
However, the
gene is transmitted through a female carrier who is often free of
symptoms, or mildly
affected with a limb weakness.