By Katie Campbell
Frequently, genetic abnormalities lead to errors in the proteins they encode. For example, inactivation of the well-studied tumor suppressor protein p53 is one of the first stages in tumor development, through a process controlled by genetic malfunctioning.
A similar process occurs with transcription factor p63, which functions in the stem cells of the epidermis to regulate their development and proliferation. When this protein experiences certain mutations (that impact the protein-protein interaction ability of p63), ankyloblepharon-ectodermal dysplasia-clefting (AEC) can occur. This life-threatening disorder leads to a variety of symptoms some of which can be treated with surgery, but there is no known treatment for the cause of AEC, the mutated p63 molecules.
A team of researchers at Goethe University Frankfurt has recently shown that the mutations responsible for AEC expose hydrophobic sections of the p63 protein that form large unstructured protein aggregates. The researchers used a variety of biological and biochemical methods in a mouse model to elucidate the mechanism. They hope that this research will not just help patients afflicted with AEC, but also lead to new treatments or cures for other diseases caused by protein aggregates such as Parkinson’s Disease, Alzheimer’s Disease, and ALS.
Goethe University Frankfurt. "Cause of severe genetic disease identified: AEC syndrome caused by pathological protein aggregates/Research lays groundwork for causal therapies." ScienceDaily. ScienceDaily, 2 February 2018. <www.sciencedaily.com/releases/2018/02/180202112631.htm>.