DETECTION AND TREATMENT FOR CONGENITAL MUSCULAR DYSTROPHY WITH MITOCHONDRIAL DISORDER

PROBLEM TO BE SOLVED: To provide a method for detecting congenital muscular dystrophy with a mitochondrial disorder.SOLUTION: The method for detecting congenital muscular dystrophy with a mitochondrial disorder includes steps of: measuring variations of choline kinase β (CHKB) gene on the basis a sp...

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Hauptverfasser:	NISHINO KAZUMI, MIHASHI SATOMI
Format:	Patent
Sprache:	eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY HUMAN NECESSITIES HYGIENE INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS MEDICAL OR VETERINARY SCIENCE METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING PHYSICS PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS SPIRITS TESTING VINEGAR WINE
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Zusammenfassung:	PROBLEM TO BE SOLVED: To provide a method for detecting congenital muscular dystrophy with a mitochondrial disorder.SOLUTION: The method for detecting congenital muscular dystrophy with a mitochondrial disorder includes steps of: measuring variations of choline kinase β (CHKB) gene on the basis a specimen from a person being tested; and diagnosing congenital muscular dystrophy with a mitochondrial disorder when the choline kinase β (CHKB) activity reduces to approximately 0-30% of normal activity thereof by the variations. There is also provided a composition for a gene therapy for the disease that includes a vector containing DNA encoding normal choline kinase β (CHKB) in an expressible state.