PMID: 18188427Jan 12, 2008Paper

Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism

Bioinformation
Bell Raj Eapen

Abstract

Ultraviolet A photosensitivity is a debilitating symptom associated with the metabolic disorder Smith-Lemli-Opitz syndrome (SLOS). SLOS is a manifestation of the deficiency of 7-dehydrocholesterol reductase, an enzyme involved in the cholesterol biosynthesis. As a result several abnormal intermediary compounds are formed among which Cholesta 5, 7, 9(11)-trien-3beta-ol is the most likely cause of photosensitivity. The effect of various drugs acting on cholesterol biosynthetic pathway on SLOS is not clear as clinical trials are not available for this rare disorder. A Flux Balance Analysis (FBA) has been carried out using the software CellNetAnalyzer or FluxAnalyzer to gain insight into the probable effects of various drugs acting on cholesterol biosynthetic pathway on photosensitivity in SLOS. The model consisted of 44 metabolites and 40 reactions. The formation flux of Cholesta 5, 7, 9(11)-trien-3beta-ol increased in SLOS and remained unchanged on simulation of the effect of miconazole and SR31747. However zaragozic acid can potentially reduce the flux through the entire pathway. FBA predicts zaragozic acid along with cholesterol supplementation as an effective treatment for photosensitivity in SLOS.

References

Feb 1, 1990·Nature·J L Goldstein, M S Brown
Jan 31, 1997·American Journal of Medical Genetics·M IronsG Salen
Jul 17, 1998·The British Journal of Dermatology·C R CharmanA Anstey
Feb 13, 2001·The British Journal of Dermatology·R M AzurdiaL E Rhodes
Mar 10, 2001·Human Mutation·M Witsch-BaumgartnerG Utermann
Sep 22, 2001·Journal of Photochemistry and Photobiology. B, Biology·A Anstey
Apr 24, 2002·Biochemical and Biophysical Research Communications·James L Gaylor
May 10, 2002·Environmental Microbiology·Jeremy S EdwardsBernhard Palsson
Feb 1, 1964·The Journal of Pediatrics·D W SMITHJ M OPITZ
Oct 29, 2003·Current Opinion in Biotechnology·Kenneth J KauffmanJeremy S Edwards
Jan 7, 2005·Chemical & Pharmaceutical Bulletin·Seiichi Nakamura
Feb 11, 2005·Journal of Inherited Metabolic Disease·M RossiG Andria
Oct 26, 2005·Nucleic Acids Research·Peter D KarpNúria López-Bigas
Nov 2, 2005·PLoS Computational Biology·Karthik RamanNagasuma Chandra

❮ Previous
Next ❯

Citations

Apr 21, 2009·Biotechnology and Bioengineering·Hojung NamDoheon Lee
Jun 20, 2012·American Journal of Medical Genetics. Part a·Stacey ReynoldsRoxanna Bendixen
Sep 6, 2018·Neural Computation·Beatrice Alexandra Golomb
Aug 11, 2017·American Journal of Medical Genetics. Part a·Miyad MovassaghiForbes D Porter

❮ Previous
Next ❯

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.