We’re always excited to hear about the variety of new uses being developed for mass spectrometry and ultra-performance liquid chromatography. Each one means our dedicated benches for mass spectrometers are literally supporting groundbreaking efforts in a variety of fields.
In this post, we want to acknowledge how mass spectrometry is helping scientists improve the diagnoses of two rare childhood diseases.
Tackling Uncommon Diseases
Some childhood illnesses are household names; examples include RSV, croup, chicken pox, and cystic fibrosis. These occur frequently enough that significant research has been conducted—and continues to take place—to address both diagnosis and treatment of these diseases.
However, there are other diseases that, while cumulatively affecting many children, receive much less attention for diagnosis and treatment due to their relatively lower rates of occurrence.
Fortunately, in recent decades, researchers have begun to better address these less-common diseases and disorders, with advances in modern lab capabilities acting as a major factor in their increased success.
Testing Subtypes and Finding Markers
Sometimes part of the problem with rarer diseases is determining subtypes. Congenital disorders of glycosylation (CDGs) are one set of rare disorders that appear in a variety of forms. With all CDGs, the body cannot form glycoproteins or glycolipids.
Current tests determine the presence of CDG by detecting variations in the glycoprotein transferrin, but they cannot distinguish the various subtypes. Since treatment is available for only one subtype, this lack of specificity has real-world consequences.
To further refine diagnostic processes, researchers isolated two types of sugars in the body, N-tetrasaccharide and N-linked Man3GlcNAc2. Using liquid chromatography tandem-mass spectrometry (LC-MS/MS), they discovered that a new, specific type of N-tetrasaccharide was only present in patients with CDG. Furthermore, mass spectrometry revealed that heightened levels of Man3GlcNAc2 were present in two common CDG subtypes (PMM2-CDG and MPI-CDG), thus differentiating them from the third common subtype, ALG1-CDG.
Additional research using mass spectrometry has also revealed that N-tetrasaccharide levels decrease when patients with two types of CDG are treated with a sugar mannose. Previously, only one of those types, MPI-CDG, had a known treatment. This latest discovery provides an avenue for investigating possible treatment options for ALG1-CDG, and potentially other subtypes as well.
Mass Spectrometry Screening for Metachromatic Leukodystrophy
Another childhood disorder in need of additional research is metachromatic leukodystrophy, which causes sulfatide, a fatty substance, to accumulate in various parts of the body.
Newborn screening treatments have traditionally not been sensitive enough to detect the concentration of sulfatides in dried blood. However, mass spectrometry and ultra high performance liquid chromatography (UHPLC) are now being used to reduce signal-to-noise ratios, resulting in an optimized extraction of sulfatides from the traditional dried-blood sample.
Furthermore, the level of specific concentrations of sulfatides has also proven to correlate with disease severity and onset. Higher concentrations of sulfatides, especially of one specific type, species C18:0, clearly indicate an aggressive form of the disease, which manifests in the first two years of life.
Supporting Research with Dedicated Benches for Mass Spectrometry
Exciting research advances like those mentioned here are occurring in part because it’s a lot easier to link and use mass specs and HPLCs than ever before. Our dedicated lab benches are specially designed to maximize the efficiency and safety of these pioneering configurations.
To learn more about setting up your own tandem MS or LC-MS/MS configuration, request a quote today.