Mutations in SLC25A26 and mitochondrial methylation defects

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Kishita et al (AJHG 2015( 97) 761-768) just published a very interesting paper in which they describe that mutations in the mitochondrial S-adenosylmethionine (SAM) transporter SLC25A26 cause an autosomal recessive, severe mitochondrial disease. The mitochondrial functional defects are shown to be widespread and include RNA instability, translational defects, and cofactor biosynthetic defects.

This leads one to wonder about how other methylation defects leading to SAM imbalances could also lead to downstream mitochondrial defects.

Hilary Vernon, MD PhD

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