RYR1


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RYR1

A gene on chromosome 19q13.1 that encodes a ryanodine receptor found in skeletal muscle, which acts as a calcium channel connecting the sarcoplasmic reticulum and transverse tubules.

Molecular pathology
RYR1 mutations are linked to malignant hyperthermia susceptibility, central core disease and minicore myopathy with external ophthalmoplegia.
References in periodicals archive ?
This study compared methylation differences and expression differences of 12 genes, including TGFB3, ACSL1, RYR1, ACOX2, PPARG2, NTN1, RIN2, MAPRE1, ADAMTS2, MYOM1, ZDHHC13, and SH3PXD2B.
We (a) analyzed histological sections to quantify the percentage of EDL fibers affected by structural damage following the heat stress protocol (Figures 3(a), 3(b), 3(c), 3(d), and 3(i); see also Supplementary Table 4); (b) labeled small bundles of EDL fibers with a primary antibody against RYR1, marking the position of calcium release units (CRUs) to visualize striation abnormalities (Figures 3(e), 3(f), 3(g), and 3(h)); (c) measured the blood levels of CK (in serum), [K.sup.+] (in plasma), and [Ca.sup.2+] (in plasma), recognized markers of skeletal muscle damage and rhabdomyolysis (Figures 3(j), 3(k), and 3(l)).
Importantly, PCB-95 is significantly more potent and efficacious in disrupting cation regulation of mutant R61 5C-RYR1 compared with wild type RyR1 (Ta and Pessah 2007).
We confirmed that cells cultured under these conditions acquire skeletal muscle-specific proteins such as sarcomeric [alpha]-actinin and RYR1 by indirect immunofluorescent staining (data not shown).
In addition, propofol and caffeine may interact differently with the RYR1 [Ca.sup.2+] release channel.
1), which roughly correspond to the RYR1 regions targeted by mutations causing malignant hyperthermia (MHS1; OMIM 145600) or central core disease (CCD; OMIM 117000) (14-29).
Microsomal membrane preparations enriched in RyR1 or RyR2 were isolated from skeletal muscle and heart, respectively, from male New Zealand White rabbits (Charles River Laboratories, Hollister, CA) as described previously (Mack et al.
The disorder is essentially a result of a defect in calcium homeostasis(2), which can result from an alteration in DNA coding for the ryanodine receptor (RYR1) on chromosome 19q(3,4).
Finally, we identified 5 individuals we would consider to be at risk for malignant hyperthermia due to rare variants in RYR1 and CACNA1S.
Genetic testing was sent to a lab for sequencing of both the RYR1 and CACNA1S genes, known to be associated with MH.
The most known CCD is the autosomal dominant inherited form caused by mutations localized in three hot spots in the ryanodine receptor 1 gene (RYR1), associated with malignant hyperthermia susceptibility (MHS) and clinically characterized by minor hypotonia and nonprogressive weakness.
Indeed, mRNAs from RyR1, RyR2, and RyR3 subtypes are expressed in the VSM of the thoracic aorta [15], the mesenteric arteries [15], the large cerebral arteries [16], and the cerebral microcirculation [5], indicating that the VSM from different sized vessels contains the three RyR isoforms.