The composition and calcium transport activity of the sarcoplasmic reticulum from goats with and without heritable myotonia.

Studies were conducted on purified sarcoplasmic reticulum isolated from myotonic goats, an animal model of heritable myotonia. When compared to sarcoplasmic reticulum from normal goats, fragmented sarcoplasmic reticulum from the myotonic goat had (1) increased levels of calcium, (2) increased rates of calcium uptake and efflux, (3) an increased sialic acid content, and (4) an increased content of saturated fatty acids. These differences support the concept of a structural and functional defect as a basis for the abnormal contraction-relaxation characteristics of myotonia.