Mutations screening of myocilin
and beta-1,4-galactosyltransferase 3 in primary open-angle glaucoma
Se encuentra localizado en el cromosoma 1q23-25, llamado Myocilin
, codificado como GLC1A (20) (figura 2).
OLFM3 is an olfatomedin-related protein that interacts with myocilin
(Torrado et al.
Sodium 4-Phenylbutyrate Acts as a Chemical Chaperone on Misfolded Myocilin
to Rescue Cells from Endoplasmic Reticulum Stress and Apoptosis.
10 years) primary angle closure glaucoma (PACG) for (i) analyzing mutations in myocilin
(MYOC) gene, (ii) inheritance pattern of MYOC gene, (iii) comparing the frequency of MYOC gene in northern and southern population, and (iv) detect genotype and phenotype correlation based on mutations.
The suitability of DNA extracted from tissue sections was confirmed by the amplification of the cellular gene Myocilin
, using primers capable of amplifying conserved 200 bp of coding sequence (primer sequence in the Table).
Papers includes the age and racial variations, risk factors for open-angle glaucoma, risk factors in various isolated populations, mechanisms of intraocular pressure elevation, genetics of glaucoma (including susceptibility and myocilin
mutations), molecular and cellular responses in the eye to glaucoma, ocular tissue and psycho-physiological responses, current and successful models, and therapeutic modalities.
Shortly after the identification of the first candidate gene for primary open angle glaucoma, the "trabecular meshwork inducible gluco-corticoid response" (TIGR) gene, the gene Myocilin
(MYOC), was isolated from cDNA from human retina (Stone et al.
sup] Among myocilin
( MYOC ) mutations, Pro370Leu (P370L) is responsible for one of the most severe glaucoma phenotypes.
is a protein produced in the eye, but its role is not clear.