A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Abstract

Every year individuals experience symptoms that remain undiagnosed by healthcare providers. In the United States, these rare diseases are defined as a condition that affects fewer than 200,000 individuals. However, there are an estimated 7000 rare diseases, and there are an estimated 25–30 million Americans in total (7.6–9.2% of the population as of 2018) affected by such disorders. The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Mass spectrometry-based metabolomics and lipidomics analyses could advance the collective understanding of individual symptoms and advance diagnoses for individuals with heretofore undiagnosed disease. Here, we report the mass spectrometry-based metabolomics and lipidomics analyses of blood plasma, urine, and cerebrospinal fluid from 148 patients within the UDN and their families, as well as from a reference population of over 100 individuals with no known metabolic diseases. The raw and processed data are available to the research community so that they might be useful in the diagnoses of current or future patients suffering from undiagnosed disorders.

Investigating Global Lipidome Alterations with the Lipid Network Explorer

“…As a third example, we are showcasing plasma lipidome data from a human reference population presented in Kyle et al [ 22 ], which comprises 136 samples and 302 lipids, mostly identified as molecular species. All patients do not suffer from any diagnosed disease and represent the United States population in terms of age and sex distribution.…”

“…Prior to uploading the data, reported as peak areas, it was quotient-normalized [ 32 ] and generalized log2 transformed. Healthy human reference population data of the plasma lipidome was taken from Kyle et al [ 22 ]. Unsupported lipid classes, namely Sulfatide and Carnitine, two Endocannabinoids and Co-Enzyme Q10 were removed, and LPE-P was manually added to the lipid class settings file.…”

“… Global age-related plasma lipidome changes in a healthy human reference population from Kyle et al [ 22 ]. Node colors represent log fold-changes with blue being negative, i.e., lower in the first condition, and red being positive.…”

“…Chain length modification (blue), desaturation (orange), fatty acid addition (green) and head group modification (red).

Figure A6 Detailed view on the PC/PE subnetwork from Kyle et al [ 22 ] comparing ( a ) Toddler to Children, ( b ) Children to Teenager, ( c ) Teenager to Young Adults and ( d ) Young Adults to Older Adults.

Figure A7 Neutral lipid subnetwork based on Kyle et al [ 22 ] comparing ( a ) Toddler to Children, ( b ) Children to Teenager, ( c ) Teenager to Young Adults and ( d ) Young Adults to Older Adults.

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“… Detailed view on the PC/PE subnetwork from Kyle et al [ 22 ] comparing ( a ) Toddler to Children, ( b ) Children to Teenager, ( c ) Teenager to Young Adults and ( d ) Young Adults to Older Adults. …”