Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609015 (trait) , 600890 (gene) , 143450 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific name: Atypical myopathy

Species-specific description: Sander et al. (2021): "Several thousands of severe, often letal cases of atypical myopathy (AM) caused by the ingestion of seeds and seedlings of some Acer species have been observed in horses and other equids, occurring in all age groups from the very young to the very old animals [for review see Votion et al. (2020)]. Hypoglycin A (HGA) and methylenecyclopropylglycine (MCPG) are the constituents responsible for this. Newborn foals, however, that do not yet consume green forage themselves and therefore can receive Acer toxins prenatally only via the placenta or postnatally with the milk are apparently very rarely affected by AM. ... we hypothesize that the low concentrations of active maple toxins to be expected in a foal fed with collostrum or milk will only lead to acute disease if there is a special, possibly genetically determined sensitivity." Sander et al. (2021) investigated a single foal with severe atypical myopathy and identified an "extensive loss of function of the enzyme ... long-chain enoyl-CoA hydratase (OMIM 609015, EC 4.2.1.74). The enzyme is, at least in humans, integrated into the mitochondrial trifunctional protein which also harbors the ß-hydroxy-acyl-CoA dehydrogenase and long-chain thiolase. .... Whether a genetic defect could underlie the present case would have had to be proven by appropriate genetic studies. Unfortunately, no suitable tissue was available."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing