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Lanosterol AND Cataract

Xiaodan Chen, Li Liu
BACKGROUND: Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited. CASE PRESENTATION: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient's parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
Lei Lv, Dan Li, Hui Wang, Chengjian Li, Xian Qian, Heng-Tao Dong, Jianguo Sun, Liang Zhao
Cataracts are the most common cause of blindness worldwide affecting tens of millions of people. Here, we report a simple, rapid, sensitive and specific method by ultra performance liquid chromatography-tandem mass spectrometry with the electrospray ionization mode (UPLC-ESI-MS/MS) for quantitation of lanosterol, a possible effective drug for cataracts, in the vitreous humor of rabbits after ocular administration. The injected lanosterol was prepared by dispersing lanosterol molecules into the poly-(dl-lactic acid-co-glycolic acid)-poly(ethylene glycol)-poly-(dl-lactic acid-co-glycolic acid) (PLGA-PEG-PLGA) thermogel solution...
October 13, 2017: Journal of Chromatography. A
Liang-Bo Qi, Li-Dan Hu, Huihui Liu, Hai-Yun Li, Xiao-Yao Leng, Yong-Bin Yan
β/γ-Crystallins are predominant structural proteins in the cytoplasm of lens fiber cells and share a similar fold composing of four Greek-key motifs divided into two domains. Numerous cataract-causing mutations have been identified in various β/γ-crystallins, but the mechanisms underlying cataract caused by most mutations remains uncharacterized. The S228P mutation in βB1-crystallin has been linked to autosomal dominant congenital nuclear cataract. Here we found that the S228P mutant was prone to aggregate and degrade in both of the human and E...
July 2016: Protein & Cell
Xiao-Yao Leng, Hai-Yun Li, Jing Wang, Liang-Bo Qi, Yi-Bo Xi, Yong-Bin Yan
The high solubility and lifelong stability of crystallins are crucial to the maintenance of lens transparency and optical properties. Numerous crystallin mutations have been linked to congenital cataract, which is one of the leading causes of newborn blindness. Besides cataract, several crystallin mutations have also been linked to syndromes such as congenital microcornea-cataract syndrome (CMCC). However, the molecular mechanism of CMCC caused by crystallin mutations remains elusive. In the present study, we investigated the mechanism of CMCC caused by the X253R mutation in βB1-crystallin...
July 15, 2016: Biochemical Journal
Francine Behar-Cohen, Thomas J Wolfensberger
Whilst imaging methods are developed allowing non-invasive analysis and quantification of corneal nerves, retinal nerve fibers and retinal vessels, the eye is considered as an open window on the nervous and vascular system. In the field of therapies, macular edema can be reduced using several drugs with different mechanisms of action and different kinetics. Artificial retina is now available in Switzerland and gene therapy continues to develop but should still be considered rather as a research tool than as a treatment...
January 13, 2016: Revue Médicale Suisse
P Mahesh Shanmugam, Aditya Barigali, Jayant Kadaskar, Sandip Borgohain, Divaynsh Kailash Chandra Mishra, Rajesh Ramanjulu, C K Minija
AIM: To study the effect of lanosterol on age-related cataractous human lens nuclei. MATERIALS AND METHODS: Forty age-related cataractous nuclei removed during manual small incision cataract surgery were obtained and randomly immersed in 25 mM lanosterol solution or in control solution and stored at room temperature for 6 days. Pre- and post-immersion photographs were graded by two masked observers and collated for the regression or progression of lens opacity. RESULTS: Both lanosterol and control groups showed progression or no change in the lens opacity at the end of 6 days...
December 2015: Indian Journal of Ophthalmology
Roy A Quinlan
No abstract text is available yet for this article.
November 6, 2015: Science
Ling Zhao, Xiang-Jun Chen, Jie Zhu, Yi-Bo Xi, Xu Yang, Li-Dan Hu, Hong Ouyang, Sherrina H Patel, Xin Jin, Danni Lin, Frances Wu, Ken Flagg, Huimin Cai, Gen Li, Guiqun Cao, Ying Lin, Daniel Chen, Cindy Wen, Christopher Chung, Yandong Wang, Austin Qiu, Emily Yeh, Wenqiu Wang, Xun Hu, Seanna Grob, Ruben Abagyan, Zhiguang Su, Harry Christianto Tjondro, Xi-Juan Zhao, Hongrong Luo, Rui Hou, J Jefferson, P Perry, Weiwei Gao, Igor Kozak, David Granet, Yingrui Li, Xiaodong Sun, Jun Wang, Liangfang Zhang, Yizhi Liu, Yong-Bin Yan, Kang Zhang
The human lens is comprised largely of crystallin proteins assembled into a highly ordered, interactive macro-structure essential for lens transparency and refractive index. Any disruption of intra- or inter-protein interactions will alter this delicate structure, exposing hydrophobic surfaces, with consequent protein aggregation and cataract formation. Cataracts are the most common cause of blindness worldwide, affecting tens of millions of people, and currently the only treatment is surgical removal of cataractous lenses...
July 30, 2015: Nature
Marie-Hélène Fouchet, Frédéric Donche, Christelle Martin, Anne Bouillot, Christophe Junot, Anne-Bénédicte Boullay, Florent Potvain, Sylvie Demaria Magny, Hervé Coste, Max Walker, Marc Issandou, Nérina Dodic
We describe the discovery of novel potent inhibitors of 2,3-oxidosqualene:lanosterol cyclase inhibitors (OSCi) from a focused pharmacophore-based screen. Optimization of the most tractable hits gave a series of compounds showing inhibition of cholesterol biosynthesis at 2mg/kg in the rat with distinct pharmacokinetic profiles. Two compounds were selected for toxicological study in the rat for 21 days in order to test the hypothesis that low systemic exposure could be used as a strategy to avoid the ocular side effects previously described with OSCi...
June 1, 2008: Bioorganic & Medicinal Chemistry
Masayuki Mori, Jinko Sawashita, Keiichi Higuchi
We previously identified mutant alleles of the lanosterol synthase (Lss) and farnesyl diphosphate farnesyl transferase 1 (Fdft1) genes, which function in the cholesterol biosynthesis pathway, as determinants for hereditary cataracts in the SCR rat strain. Lss(S) and Fdft1(S) were established as hypomorphic alleles with missense nucleotide substitutions, while Lss(l) is a null allele with nucleotide deletion/insertion mutations. Here we report a more detailed characterization of the rat Lss and Fdft1 genes. Screening of various laboratory rat strains revealed that the hypomorphic Lss(S) and Fdft1(S) alleles are not specific to the SCR strain, but are widely prevalent in other laboratory rat strains...
April 2007: Experimental Animals
Masayuki Mori, Guixin Li, Ikuro Abe, Jun Nakayama, Zhanjun Guo, Jinko Sawashita, Tohru Ugawa, Shoko Nishizono, Tadao Serikawa, Keiichi Higuchi, Seigo Shumiya
The Shumiya cataract rat (SCR) is a hereditary cataractous strain. It is thought that the continuous occurrence of poorly differentiated epithelial cells at the bow area of the lens forms the pathophysiological basis for cataract formation in SCRs. In this study, we attempted to identify the genes associated with cataract formation in SCRs by positional cloning. Genetic linkage analysis revealed the presence of a major cataract locus on chromosome 20 as well as a locus on chromosome 15 that partially suppressed cataract onset...
February 2006: Journal of Clinical Investigation
G E Herman
The X-linked dominant male-lethal mouse mutations tattered and bare patches are homologous to human X-linked dominant chondrodysplasia punctata and CHILD syndrome, rare human skeletal dysplasias. These disorders also affect the skin and can cause cataracts and microphthalmia in surviving, affected heterozygous females. They have recently been shown to result from mutations in genes encoding enzymes involved in sequential steps in the conversion of lanosterol to cholesterol. This review will summarize clinical features of the disorders and describe recent biochemical and molecular investigations that have resulted in the elucidation of the involved genes and their metabolic pathway...
December 15, 2000: Biochimica et Biophysica Acta
N Braverman, P Lin, F F Moebius, C Obie, A Moser, H Glossmann, W R Wilcox, D L Rimoin, M Smith, L Kratz, R I Kelley, D Valle
X-linked dominant Conradi-Hünermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata (CDP). This is most prominent around the vertebral column, pelvis and long bones in CPDX2. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis and atrophoderma. The phenotype in CDPX2 females ranges from stillborn to mildly affected individuals identified in adulthood. CDPX2 is presumed lethal in males, although a few affected males have been reported...
July 1999: Nature Genetics
J Dillon, B Mehlman, L Ponticorvo, A Spector
A simple and rapid high pressure liquid chromatographic method (HPLC) was developed to analyse the neutral lipid fraction from normal and cataractous human lenses. No differences were found between old normal and cataractous lenses suggesting that membrane deterioration in cataracts is not due to oxidation of these components. Several new lens components were isolated and identified including cholesterol metabolites, and vitamin E (alpha-tocopherol).
July 1983: Experimental Eye Research
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