Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

RRM2B is a nuclear gene that encodes p53R2, a protein required for synthesising mitochondrial DNA (mtDNA). Accumulation of multiple mtDNA deletions in muscle and other tissues is a relatively frequent cause of mitochondrial disease in adults. Multiple mtDNA deletions arise because of faulty mtDNA replication, and we now show that 4% of 50 patients seen [...]

Source: http://blogs.bmj.com/jmg/2011/03/05/kearns-sayre-syndrome-caused-by-defective-r1p53r2-assembly/

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