Thursday, May 5, 2011

Remember the Membranes

Here is a study showing  mutations in genes for proteins called "lamins" are responsible for genetically induced accelerated aging found in the condition called progeria.   These lamins are important for creating the nuclear lamina which forms the scaffolding for the nuclear envelope encompassing our DNA.  Previous work has indicated major parts of the nuclear envelope are linked with progeroid syndromes.  


The journal paper revealed a mutation in a gene called barrier-to-autointegration factor 1 (BANF1) is responsible for the drastic changes in nuclear envelope structure because of the changes to lamins. Patients had a dramatic reduction in the protein produced by this gene, and their cells exhibited substantial abnormalities in the nuclear envelope. These nuclear defects could be rescued by expression of normal BANF1.

This all makes sense in that access to the DNA through the nuclear envelope to turn on and off genes is very important to allow functional survival. 

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