Global Maps: Why do the metabolome? With 2 cc of serum, we can screen for metabolic disease and altered nutritional states.
What is
Metabolomics?
Metabolomics is the study of small molecules and an integral technology for understanding the function of biological systems. It is the systematic measurement and biological interpretation of the low molecular weight (~50-1500 Da) biochemicals or “metabolites” within a biological sample, such as urine, plasma or tissue. Surveying these small molecules allows for better understanding of biological mechanisms, thereby creating a more complete picture of the phenotype (the observable characteristics of a living system).
http://www.metabolon.com/news-2014/metabolon-baylor-college-of-medicine-partner-to-launch-global-metabolomic-assisted-pathway-screen-(maps)-for-inborn-errors-of-metabolism.aspx
J Proteome Res. 2012 Dec 7;11(12):5856-62. doi: 10.1021/pr300910n. Epub 2012 Nov 9.
Metabolic perturbance in autism spectrum disorders: a metabolomics study.
Abstract
Autism spectrum disorders (ASD) are a group of biological disorders with associated metabolic derangement. This study aimed to identify a pattern of metabolic perturbance in ASD using metabolomics in urinary specimens from 48 children with ASD and 53 age matched controls. Using a combination of liquid- and gas-chromatography-based mass spectrometry, we detected the levels of 82 metabolites (53 of which were increased) that were significantly altered between the ASD and the control groups using osmolality normalized data. Pattern analysis showed that the levels of several amino acids such as glycine, serine, threonine, alanine, histidine, glutamyl amino acids and the organic acid, taurine were significantly (p≤0.05) lower in ASD children. The levels of antioxidants such as carnosine were also reduced in ASD (p=0.054). Furthermore, several gut bacterial metabolites were significantly altered in ASD children who had gastrointestinal dysfunction. Overall, this study detected abnormal amino acid metabolism, increased oxidative stress, and altered gut microbiomes in ASD. The relationship of altered gut microbial co-metabolism and the disrupted metabolisms requires further investigation.
Adv Nutr. 2015 Jul 15;6(4):397-407. doi: 10.3945/an.114.007914. Print 2015 Jul.
Nutritional status of individuals with autism spectrum disorders: do we know enough?
Abstract
The incidence of individuals with autism spectrum disorders (ASDs) is on the rise; therefore, well-timed screening is important. Given that this is a nutritionally vulnerable population, it is imperative to conduct a detailed nutritional assessment so that timely and intensive interventions can be recommended. This review article summarizes the research, focusing on the nutritional status of individuals with ASDs based on their anthropometric measurements, biomarkers, and dietary assessments. Research examining anthropometric measurements reveals an abnormally accelerated rate of growth among children with autism but shows inconsistent findings on the prevalence of overweight/obesity in comparison with typically growing children. Although dysregulated amino acid metabolism, increased homocysteine, and decreased folate, vitamins B-6 and B-12, and vitamin D concentrations have been proposed as possible biomarkers for an early diagnosis of ASDs, research investigating their association with age, gender, severity, and other comorbid psychiatric/nonpsychiatric disorders is lacking. There is consensus that children with autism have selective eating patterns, food neophobia, limited food repertoire, and sensory issues. Although inadequate micronutrient but adequate macronutrient intakes are increasingly reported, there are inconsistent results about the extent and type of nutrient deficiencies. Identification and development of nutritional assessment indicators that serve as early warning signs during routine practice beginning at birth and extending throughout the child's growth are necessary. With this population aging, there is also a dire need to study the adult population. A more vigorous role by nutrition professionals is warranted because management of potential comorbidities and contributory factors may be particularly problematic.
© 2015 American Society for Nutrition.
KEYWORDS:
anthropometry; autism spectrum disorders; biochemical assessment; dietary assessment; nutritional assessment; nutritional status
Comment in
Biomarkers for mitochondrial respiratory chain disorders.
Abstract
Mitochondrial respiratory chain deficiencies are a group of more than 100 disorders of adults and children, with highly variable phenotypes. Their diagnosis is a great challenge, in spite of the fact that knowledge on their molecular genetic background has increased considerably during the last 20 years. Muscle biopsy is the key diagnostic procedure, including histological and biochemical analysis of mitochondria. Less invasive, specific and sensitive diagnostic tools based on serum biomarkers are still lacking. Recent technological developments, especially in mass spectrometry, enable novel tools for identification of local and global molecular consequences of mitochondrial respiratory chain dysfunction in patient samples. Furthermore, emerging disease models, especially genetically modified mice, offer unique materials to tackle pathophysiology with modern transcriptomic, proteomic, and metabolomic approaches. Identified molecular signals or metabolic fingerprints have the potential to be highly useful biomarkers for future diagnosis of mitochondrial respiratory chain disorders.
- PMID:
- 20941643
- [PubMed - indexed for MEDLINE]
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