Myoglobinopathy is an ultra-rare autosomal dominant neuromuscular disease first described in 2019 and caused by a His98Tyr mutation in the MB gene that encodes myoglobin. Myoglobin is the muscle equivalent of hemoglobin. It is used to store oxygen, to ensure its diffusion in the heart and muscles, and would protect the muscle cell against free radicals. Italian researchers performed comparative functional studies to better understand the deleterious effects of the previously reported His98Tyr mutation. According to their results:
- the architecture varies little between the two forms of myoglobin, mutated and non-mutated;
- mutated myoglobin tends to form protein aggregates;
- it is also more sensitive to the effects of free radicals and does not retain oxygen well.
