Metabolomic profiles of Down syndrome patients by Liquid Chromatography Mass Spectrometry (LC-MS)

Trisomy 21 or having an extra chromosome 21, causes a set of clinical traits known as Down syndrome (DS) or disorder associated with distinctive facies, intellectual disability, cognitive impairment and cardiovascular defects. It is the most common survivable autosomal aneuploidy and one of the genetically complexest situations that are compatible with post-term human survival affecting around 1 in every 830 live births in India. Nervous and endocrine system abnormalities are also linked to down syndrome. . The lifespan of these patients has been significantly increased over the past few decades thanks to significant advancements in down syndrome research and treatment. Twelve patients with Down syndrome, ranging in age from 1 month to 8 years, had their dried blood spot profiles examined. The samples were collected from patients along with the consent form from Lok Nayak hospital. We quantified several substrates using Liquid Chromatography-Mass Spectrometry analyses from both DS and control patients on the QSight 210MD Mass Spectrometer in order to assess alterations in metabolism. We estimated 81 metabolites that may affect metabolism in children with Down syndrome using the proven method to measure amino acids and derivatives in our study we prominently metabolites such as tyrosine, valine, glycine and phenylalanine were found to be altered revealing a correlation between tyrosine and thyroid hormones. Further, as our study is pilot study with small sample group and if studied in larger sample size it can be used as a tool to detect metabolites as important markers during screening of all confirmed Down syndrome patients.