Talk:Neonatal Development

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Cite this page: Hill, M.A. (2024, March 29) Embryology Neonatal Development. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Neonatal_Development

Ageing

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Eur J Hum Genet. 2012 Mar 14. doi: 10.1038/ejhg.2012.36. [Epub ahead of print]

Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T. Source Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Münster, Germany.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, but is modified into a farnesylated protein truncated by 50 amino acids (progerin). Three more variations in LMNA result in the same mutant protein, but different grades of disease severity. We describe a patient with the heterozygous LMNA mutation c.1821G>A, leading to neonatal progeria with death in the first year of life. Intracellular lamin A was downregulated in the patient's fibroblasts and the ratio of progerin to lamin A was increased when compared with HGPS. It is suggestive that the ratio of farnesylated protein to mature lamin A determines the disease severity in progeria.European Journal of Human Genetics advance online publication, 14 March 2012; doi:10.1038/ejhg.2012.36.

PMID 22419169

Immunity

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Melamine

Melamine is commonly used to manufacture strong and durable laminates, plastics, adhesives, and flame-resistant textiles. It also has been deliberately added to food and animal feed, sometimes in high amounts, to boost the appearance of protein content based on nitrogen analysis.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799490/?tool=pubmed