Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18

European Journal of Medical Genetics
Wayne W K LamD Fitzpatrick

Abstract

We report a series of neonates and foetuses with trisomy 18 and abnormally low cholesterol levels and propose that down regulation of cholesterol synthesis in trisomy 18 is, in part, responsible for its phenotype. Cholesterol is a major structural lipid of cell membranes, as well as the precursor of steroid hormones and bile acids. Several human malformation syndromes have been identified biochemically as disorders of cholesterol biosynthesis. Trisomy 18, a multi-system malformation syndrome, has clinical features that overlap with those of disorders of cholesterol biosynthesis and dysregulation of this pathway may have a role in the developmental pathology.

References

Jan 13, 1994·The New England Journal of Medicine·G S TintG Salen
May 9, 2000·The American Journal of Clinical Nutrition·C RouxD Citadelle
Jul 19, 2000·Mental Retardation and Developmental Disabilities Research Reviews·M Muenke, M M Cohen
Nov 10, 2001·Annual Review of Genomics and Human Genetics·R I Kelley, G E Herman
May 16, 2002·Journal of Perinatal Medicine·Jonathan Gillen-GoldsteinBruce K Young
Mar 26, 2003·Nature Genetics·Michael K CooperPhilip A Beachy
Oct 23, 2004·Science·David L Nelson, Richard A Gibbs
Jan 27, 2005·Biochemical and Biophysical Research Communications·Jouni VesaJulie R Korenberg

❮ Previous
Next ❯

Citations

Dec 1, 2009·Journal of Medical Case Reports·Kotb A MetwalleyAlaa A Abd-Elsayed
Mar 6, 2007·European Journal of Medical Genetics·Janine F FelixAnnelies de Klein
May 20, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Janine F FelixDick Tibboel
Jul 17, 2013·Journal of Pediatric Gastroenterology and Nutrition·Damian BednarczykRobert Smigiel

❮ Previous
Next ❯

Related Concepts

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.