Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
When the ‘healthy’ HD gene functions as it should, one of its many jobs is in the development of normal embryos. Researchers have long assumed that the ‘mutant’ HD gene inherited by people with HD is still able to do this job, since HD patients develop normally and don’t show signs until later in life. A surprising new finding suggests we may have to think carefully about this assumption!
The huntingtin gene and protein are active throughout our bodies, and weight loss is a well-known problem once symptoms of Huntington's disease begin. Yet for many years, people with the mutation that causes HD, look and feel the same as people without it. Now a small study suggests that children carrying the HD mutation may have subtle differences in growth. Are these differences real, and what do they mean?