Single nucleotide polymorphisms identified correlating to severity in Charcot-Marie-Tooth disease

Takeaway

  • Four intronic single nucleotide polymorphisms (SNPs) in signal induced proliferation associated 1 like 2 (SIPA1L2) are enriched at synaptic sites in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), indicating that SIPA1L2 is a potential genetic modifier of CMT1A phenotype.

Why this matters ?

  • Understanding epigenetic factors that influence CMT severity could help in the identification of therapeutic targets.