Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

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Affinity proteomics within rare diseases : a BIO-NMD study for blood biomarkers of muscular dystrophies

Ayoglu, Burcu (author): KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab

Chaouch, Amina (author)

Lochmüller, Hanns (author)

Politano, Luisa (author)

Bertini, Enrico (author)

Spitali, Pietro (author)

Hiller, Monika (author)

Niks, Eric H. (author)

Gualandi, Francesca (author)

Pontén, Fredrik (author): Uppsala universitet,Molekylär och morfologisk patologi,Science for Life Laboratory, SciLifeLab

Bushby, Kate (author)

Aartsma-Rus, Annemieke (author)

Schwartz, Elena (author)

Le Priol, Yannick (author)

Straub, Volker (author)

Uhlén, Mathias (author): KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab

Cirak, Sebahattin (author)

't Hoen, Peter A. C. (author)

Muntoni, Francesco (author)

Ferlini, Alessandra (author)

Schwenk, Jochen M. (author): KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab

Nilsson, Peter (author): KTH,Proteomik och nanobioteknologi,Science for Life Laboratory, SciLifeLab

Szigyarto, Cristina Al-Khalili (author)

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(creator_code:org_t)

2014-06-11
2014
English.
In: EMBO Molecular Medicine. - : EMBO. - 1757-4676 .- 1757-4684. ; 6:7, s. 918-936

Related links:: https://doi.org/10.1...; show more...; https://urn.kb.se/re...; https://doi.org/10.1...; https://urn.kb.se/re...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. We addressed this challenge by combining samples collected within the BIO-NMD consortium from four geographically dispersed clinical sites to identify protein markers associated with muscular dystrophy using an antibody bead array platform with 384 antibodies. Based on concordance in statistical significance and confirmatory results obtained from analysis of both serum and plasma, we identified eleven proteins associated with muscular dystrophy, among which four proteins were elevated in blood from muscular dystrophy patients: carbonic anhydrase III (CA3) and myosin light chain 3 (MYL3), both specifically expressed in slow-twitch muscle fibers and mitochondrial malate dehydrogenase 2 (MDH2) and electron transfer flavo-protein A (ETFA). Using age-matched sub-cohorts, 9 protein profiles correlating with disease progression and severity were identified, which hold promise for the development of new clinical tools for management of dystrophinopathies.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)

Keyword

antibody-based proteomics
disease severity biomarkers
Duchenne muscular dystrophy
plasma profilling
protein profiling

Publication and Content Type

ref (subject category)
art (subject category)

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Medical Biotechn ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Immunology in th ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: EMBO Molecular M ...

By the university: Royal Institute of Technology; Uppsala University

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