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.
After analyzing both scans together for DNA variants associated with differences between when each patient's movement - associated
symptoms first appeared and when they would have been expected based on the number
of CAG repeats, MGH CHGR investigator and lead author Jong - Min Lee, PhD, identified two locations on chromosome 15 where variants were significantly associated with either
early or late
symptom onset.