MYOC


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Related to MYOC: myocardial infarction

MYOC

A gene on chromosome 1q23-q24 that encodes myocilin, a protein thought to play a role in cytoskeletal function, which is highly expressed in ocular tissues including the trabecular meshwork, which regulates intraocular pressure.

Molecular pathology
MYOC mutations cause hereditary juvenile-onset open-angle glaucoma.
References in periodicals archive ?
In order to investigate the kinetics of ExiTron MyoC 8000, signal enhancements, that is, baseline-corrected CT-values, in tissues of healthy mice were measured over a period of 250 min after injection of the contrast agent at a dose of 1050 mg I/kg body weight with an additional scan after 24 h (Figure 1).
Similar to the signal enhancement in the blood, the signal enhancement in the myocardium rapidly increases following injection of ExiTron MyoC 8000, an effect that has also been reported for a different nanoparticulate contrast agent [5, 6].
Besides providing signal enhancement in the blood and myocardium, ExiTron MyoC 8000 also results in the enhancement of other tissues (Figure 1).
The mutation, c.1456C< T, in the exon 3 of MYOC gene would lead to the replacement of leucine by phenylalanine.
MYOC gene locates at GLC1A locus on chromosome 1q23, includes three exons and encodes for 57kD MYOC protein, which is the first gene identified to be responsible for POAG.[sup][8],[9] MYOC protein is expressed in various ocular tissues, including cornea, sclera, iris, ciliary body, retina, and optic nerve head, but most abundant in TM cells.[sup][10] Most glaucoma-causing MYOC mutants are misfolded, aggregation-prone, detergent-insoluble, and accumulated in the endoplasmic reticulum, which result in cytotoxicity in TM cells.
MYOC gene may not be playing a significant role in causing POAG and PACG in our population.
A more recent study comprising 1327 individuals and 146 families (the Barbados family study of Open Angle Glaucoma) did not find any linkage to the MYOC locus, but gave some evidence for chromosomes 1, 2, 9, 10, 11 and 14 (Nemesure et al.
TABLE 1 Chromosomal location and known genes for different types of primary glaucomas Type Name Locus Inheritance #OMIM * Gene JOAG GLC1A 1q23-q25 AD** 601652 MYOC COAG GLC1B 2cen-q13 AD 606689 unknown GLC1C 3q21-q24 AD 601682 unknown GLC1D 8q23 AD 602429 unknown GLC1E 10pl5-p14 AD 602432 OPTN GLC1F 7q35-36 AD 603383 unknown PCG GLC3A 2p21 AR *** 601771 CYP1B1 GLC3B 1p36 AR 600975 unknown Type References JOAG Sheffield et al.
According to our previous procedure, the P370L mutant MYOC gene was cloned into pDsRed2-N1 generating the pDsRed2-N1-mMYOC construct and transfected into COS7 cells.[sup][3] CHOP/GADD153 protein levels were reduced using small interfering RNA (siRNA).
The membrane was incubated with antibodies against MYOC (1:500; Abcam, polyclonal, UK), CHOP (1:500; Cell Signaling, L63F7, USA), BCL2 (1:500; Abcam, bcl2/100, UK), and caspase-3 (1:1000; Abcam, 3G2, UK) in blocking buffer overnight at 4[degrees]C.
To this end, we compared the gene expression profiles of metastatic-derived neuroblasts (BM and Myoc) with stage 4 disease profiles from the IGR-N-91 experimental human NB model (9,10) using Agilent long oligonucleotide arrays with 8 arrays (see the section "Microarray Experiments", above).
We found that GALNTI3 gene expression was considerably greater in the BM and Myoc metastatic neuroblasts than in the stage 4 disease cells (P <0.001) as assessed by Q-PCR and nested RT-PCR analyses (Fig.