Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attribu...

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Bibliographic Details
Published in:Clinical chemistry (Baltimore, Md.) Md.), 2017-04, Vol.63 (4), p.908-914
Main Authors: Moat, Stuart J, Korpimäki, Teemu, Furu, Petra, Hakala, Harri, Polari, Hanna, Meriö, Liisa, Mäkinen, Pauliina, Weeks, Ian
Format: Article
Language:English
Subjects:
Adult
Age
Automation
Biomarkers
Blood
Blood levels
Creatine
Creatine kinase
Creatine Kinase - blood
Creatine Kinase - metabolism
Cross-reactivity
Duchenne's muscular dystrophy
Dystrophy
Enzymatic activity
Enzyme activity
Enzymes
Female
High-throughput screening
High-Throughput Screening Assays
Humans
Immunoassay
Incidence
Infant
Infant, Newborn
Infants
Isoenzymes - blood
Isoenzymes - metabolism
Male
Medical screening
Middle Aged
Muscle, Skeletal - enzymology
Muscular dystrophy
Muscular Dystrophy, Duchenne - blood
Muscular Dystrophy, Duchenne - diagnosis
Musculoskeletal system
Newborn babies
Skeletal muscle
Spots
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Summary:Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage. We describe a sensitive and specific automated immunoassay for CK-MM to screen for DMD in blood spots. The prototype assay was developed on the PerkinElmer GSP analyzer to enable high-throughput screening. CK-MM was assayed using a solid phase, 2-site immunofluorometric system. Purified human CK-MM was used to create calibrators and controls. The limit of blank (LOB), detection (LOD), and quantification (LOQ) values were
ISSN:0009-9147
1530-8561
DOI:10.1373/clinchem.2016.268425