Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFWe employed two compelling and distinct methods, Fourier Transform Infrared Spectroscopy (FTIR) and Ramped Pyrolysis Oxidation (Ramped PyrOx), to examine the quality of organic matter (OM) stored in four peatlands located along a latitudinal gradient (Tropical (4˚N), Subtropical (27˚N), Boreal (48˚N), and Polar (68˚N)). FTIR was used to quantify the relative abundance of carbohydrates, a relatively labile compound class, and aromatics, which are more recalcitrant, in a sample set of four peat cores. These samples were then prepared using Ramped PyrOx, a second, independent method of determining OM quality that mimics the natural diagenetic maturation of OM that would take place over long timescales.
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