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ea0086p93 | Neuroendocrinology and Pituitary | SFEBES2022

Circadian/diurnal rhythm profiles of serum and salivary melatonin, cortisol and cortisone, determined by liquid chromatography tandem mass spectrometry (LC-MS/MS)

Webb Bethany , Dunn Rachel , Ball Nicole , Fraser William , Lazar Alpar , Michalak Adriana , Voysey Zanna , Tang Jonathan

Background: Melatonin and cortisol production demonstrate circadian rhythms; disruption of these rhythms feature in endocrine and neurodegenerative disorders, such as Addison’s disease, Huntington’s disease (HD) and Alzheimer’s disease (AD). Measuring serum and saliva concentrations at nadir is challenging using immunoassays. We have developed LC-MSMS methods for measuring serum and saliva melatonin, cortisol and cortisone to analyse 24hr profile samples obtained from sleep st...

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ea0086op5.1 | Bone and Calcium | SFEBES2022

3’ UTR structural elements are associated with CYP24A1-mediated abnormal calcium handling

Ball Nicole , Duncan Susan , Payet Rocky , Piec Isabelle , Tang Jonathan , Shoenmakers Inez , Lopez Berenice , Chipchase Allison , Ding Yiliang , Fraser William D , Green Darrell

Hypomorphic CYP24A1 protein coding mutations causing inappropriate 1,25(OH)2D concentrations are associated with idiopathic infantile hypercalcemia and adult-onset hypercalciuria and nephrolithiasis. It is unclear why some cases present with CYP24A1-mediated abnormal calcium handling lack protein-coding CYP24A1 mutations. Non-coding region mutations, e.g. the 3 UTR, impacting messenger RNA (mRNA) structure have rarely been studied in...

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Endocrine Abstracts

Circadian/diurnal rhythm profiles of serum and salivary melatonin, cortisol and cortisone, determined by liquid chromatography tandem mass spectrometry (LC-MS/MS)

3’ UTR structural elements are associated with CYP24A1-mediated abnormal calcium handling

BiosciAbstracts