Huntingtin Disrupts Brain Cell Energy Production
Scientists from Massachusetts General Hospital in Boston have discovered a possible mechanism by which the protein huntingtin reduces energy production in brain cells in the hereditary disease Huntington's. This process is one of the reasons for cell death, leading to brain damage in those affected.
As the researchers led by Dimitri Krainc have now found out, in mice the modified huntingtin attaches itself to the gene of a main regulator in energy metabolism. As a result, the messenger RNA for the PGC-1-alpha factor can no longer be copied and the protein can no longer be formed. Among other things, PGC-1-alpha ensures that the cells build their "energy factories", the mitochondria.
In HD patients, energy production often becomes unbalanced years before any visible symptoms of the disease appear. The scientists suspect that PGC-1-alpha also plays a role in humans. That's why they now want to look for a substance that unblocks the regulatory factor and thus protects the brain cells early in the course of the disease.
The neurodegenerative hereditary disease Huntington's disease is based on a mutation in chromosome 4. This change in the genome causes the protein huntingtin to contain too much of the amino acid glutamine. The fatal disease only manifests itself in adulthood and has so far been considered incurable. The people affected gradually lose control of their body and mind: over the years, involuntary movements increase, their personality changes fundamentally, and the patients often become aggressive. In the end, they are neither physically nor psychologically masters of themselves.
