- The gene for a seventh aminoacyl-tRNA synthetase has just been implicated in axonal dominant Charcot-Marie-Tooth disease (CMT) thanks to whole exome sequencing of three unrelated individuals: this is asparaginyl-tRNA synthetase (NARS1); the functional study showed that it is a loss-of-function mutation.
- A homozygous variant affecting the splice site of the NDUFS6 gene, which encodes a subunit of complex I of the mitochondrial respiratory chain, and already known to cause fatal Leigh syndrome, was found to be involved in five patients from three families with axonal Charcot-Marie-Tooth disease associated with nystagmus; unlike those found in fatal forms, the variants affected neither the stability nor the bioenergetics of the mitochondrial complex.
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases. Beijer D, Marte S, Li JC et al. Brain Commun. 2024 Mar 8;6(2):fcae070.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders. Armirola-Ricaurte C, Zonnekein N, Koutsis G et al. Genet Med. 2024 Mar 5:101117.
