Some recent papers on Charcot-Marie-Tooth (CMT) disease go to show that we are steadily and impressively peeling back the complexity of the biology even though it is a relatively common rare disease with several thousand publications on it.
A recent article, Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. by Ylikallio et al., at the University of Helsinki screened CMT2 genes in 15 patients from Finland. A new mutation in Heat shock protein 1 (involved in the folding and unfolding of other proteins) was similar to one found previously that is known to impact cell viability and neurofilament assembly in the test tube. It is highly likely these mutations have a similar if not identical role.
A review called, Aminoacyl-tRNA synthetases in medicine and disease , by Yao and Fox at the Cleveland Clinic describes the role of Aminoacyl-tRNA synthetases (ARS) which are family of enzymes that have a key role transfer of information in our genetic code. Mutations in several of these enzymes are implicated in causing CMT but the linkage with pathology is unclear. The authors presented 11 ways for how the mutations can result in CMT. Interestingly these enzymes are also important targets for treating different diseases. This hints at the potential of how biological discoveries in one area like a rare disease can shed light on many other diseases at little extra cost.
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