INHIBITOR PROTEIN OF NEURONAL APOPTOSIS, GENE SEQUENCE THEREOF AND MUTATION OF THE SAME GENE CAUSATIVE OF SPINAL MUSCULAR ATROPHY

PROBLEM TO BE SOLVED: To provide a method for diagnosing spinal muscular atrophy on the basis of deletion of a neuronal apoptosis inhibitor protein gene. SOLUTION: It is found that the gene for spinal muscular atrophy which is an autosomal recessive neurodegenerative disorder is mapped to a region o...

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Hauptverfasser:	MACKENZIE ALEX E, MICHAEL MCLEAN, ROY NATALIE, KORNELUK ROBERT G, MAHADEVAN MANI S, IKEDA SHIGEMORI
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 INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING ORGANIC CHEMISTRY PEPTIDES PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS TESTING VINEGAR WINE
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Zusammenfassung:	PROBLEM TO BE SOLVED: To provide a method for diagnosing spinal muscular atrophy on the basis of deletion of a neuronal apoptosis inhibitor protein gene. SOLUTION: It is found that the gene for spinal muscular atrophy which is an autosomal recessive neurodegenerative disorder is mapped to a region of chromosome 5. Since the gene encodes a protein having homology with apoptosis inhibitor proteins of viruses, the encoded protein is specified as an NAIP (neuronal apoptosis inhibitor protein). A deletion is recognized in the NAIP region in patients suffering from the spinal muscular atrophy and not in the normal population. COPYRIGHT: (C)2008,JPO&INPIT