Atypical mitochondrial profile in Jokela spinal muscular atrophy

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Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with a higher prevalence in Finland:

  • the clinical and biochemical data of 11 Finnish patients were compared with those of 26 patients with mitochondriopathies and 28 healthy subjects,
  • all underwent a battery of tests designed to explore mitochondrial functions, including exercise tests and lactate and ammonia levels,
  • subjects with JSMA had a comparable profile to patients with mitochondriopathies in the exercise test, but not for the other parameters tested.

Despite a few atypicalities, these results confirm the presence of mitochondrial dysfunction in this syndrome caused by the CHCHD10 gene.

 

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease. Ratia N, Palu E, Lantto H, Ylikallio E et al. Front Neurol. 2023 Nov 8;14:1277944.

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