Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy
| Autor: | Ian Weeks, Stuart J. Moat, Petra Furu, Hanna Polari, Teemu Korpimaki, Pauliina Mäkinen, Liisa Meriö, Harri Hakala |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Duchenne muscular dystrophy Clinical Biochemistry 03 medical and health sciences 0302 clinical medicine Internal medicine High-Throughput Screening Assays medicine Humans Muscular dystrophy Muscle Skeletal Creatine Kinase Immunoassay Newborn screening biology medicine.diagnostic_test Chemistry Biochemistry (medical) Infant Newborn Infant Skeletal muscle Middle Aged medicine.disease Enzyme assay Isoenzymes Muscular Dystrophy Duchenne 030104 developmental biology Endocrinology medicine.anatomical_structure biology.protein Female Creatine kinase 030217 neurology & neurosurgery |
| Zdroj: | Clinical Chemistry. 63:908-914 |
| ISSN: | 1530-8561 0009-9147 |
| DOI: | 10.1373/clinchem.2016.268425 |
| Popis: | BACKGROUNDDuchenne 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.METHODSThe 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.RESULTSThe limit of blank (LOB), detection (LOD), and quantification (LOQ) values were CONCLUSIONSCK-MM can be reliably quantified in blood spots. The development of this CK-MM assay on a commercial immunoassay analyzer would enable standardized and high-throughput newborn blood spot screening of DMD. |
| Databáze: | OpenAIRE |
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