Incontinentia Pigmenti (IP) is an X-linked dominant disease caused by a mutation in the IKBKG gene. Since IKBKG helps activate NF-κB, which protects cells against TNF-alpha induced apoptosis, a lack of IKBKG (and hence a lack of active NF-κB) makes cells more prone to apoptosis.
IKBKG is also known as NEMO. NEMO is like a "master switch" that is found on the cell of the human body and regulates signals between the cell membrane and the cell nucleus. NEMO is expressed in almost all tissue cells. If NEMO is not present life is not possible. NEMO stands for Nuclear Factor Kappa B Essential Modulator. Nuclear Factor Kappa B or NFKB is the name of the protein that is used for communication between the membrane and the nucleus. NEMO is known to be the pathway of skin, skeleton, blood vessel and other vital signals. For example, the EDA gene is known to dictate properties of the "ectoderm" or last layer of the skin. The EDA gene uses the NEMO pathway to the nucleus to make the "ectoderm" properties present.
Study Data from French National Institute of Health and Medical Research (INSERM) Update Understanding of Incontinentia Pigmenti.
Apr 06, 2012; According to the authors of recent research from Paris, France, "IKBKG/NEMO gene mutations cause an X-linked, dominant...