Involvement of DNA from mitochondria proven in a family with scapulo-peroneal syndrome

For the first time, and thanks to a family with several affected people, Canadian and Finnish researchers have provided evidence of the involvement of mitochondrial DNAmacromolécule complexe, l’ADN est le support de l’hérédité (gènes). C’est le constituant des chromosomes. L’ADN est organisé en double hélice (deux brins complémentaires) et constitué de nucléotides de quatre types : adénine, guanine, cytosine et thymine. in a scapulo-peroneal syndrome:

• the initial diagnosis was that of an atypical Charcot-Marie-Tooth disease without molecular signature,
• an exhaustive high-throughput sequencing (NGS) study had previously eliminated any anomaly in the Mendelian genes known to give rise to a scapulo-peroneal syndrome (PMP22, TRPV4, MORC2, among others)
• a few ragged red fibers and several Cox-negative fibers had been observed under the microscope, without them appearing to be specific given the age of the proband,
• a large deletion of mitochondrial DNA was finally demonstrated through additional studies.

Scapuloperoneal syndrome with mitochondrial DNA deletion. Pichette É, O’Ferrall E, Karamchandani J, et al. J Neurol Sci. 2022 Jan 29;434:120164.