PAIN GENE AND APPLICATION THEREOF

PROBLEM TO BE SOLVED: To provide a means for screening a pain inhibitor (an analgesic) based on a novel mechanism by identifying a novel responsible gene associated with pain using the gene or a product thereof; and to provide a novel and useful drug discovery target for pain by revealing the relati...

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Hauptverfasser:	KONDO HIROYOSHI, KOIZUMI AKIO, HARADA KOJI, HITOMI TOSHIAKI, KOBAYASHI HATASU, HABU TOSHIYUKI, NOGUCHI ATSUKO, TAKAHASHI TSUTOMU
Format:	Patent
Sprache:	eng ; jpn
Schlagworte:	AGRICULTURE ANIMAL HUSBANDRY BEER BIOCHEMISTRY CARE OF BIRDS, FISHES, INSECTS CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIREDCHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERSFROM A RACEMIC MIXTURE FISHING FORESTRY HUMAN NECESSITIES HUNTING 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 NEW BREEDS OF ANIMALS ORGANIC CHEMISTRY PEPTIDES PHYSICS PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS SPIRITS TESTING TRAPPING VINEGAR WINE
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Beschreibung
Zusammenfassung:	PROBLEM TO BE SOLVED: To provide a means for screening a pain inhibitor (an analgesic) based on a novel mechanism by identifying a novel responsible gene associated with pain using the gene or a product thereof; and to provide a novel and useful drug discovery target for pain by revealing the relation between SCN11A and pain.SOLUTION: We found out that, by performing a pedigree linkage analysis of a patient with juvenile periodic limb pain and a genome-wide exome sequencing, the responsible gene of the familial pain in the pedigree concerned is SCN11A, and that a missense mutation induces pain into a coding portion of a particular amino acid residue in the gene, and constructed a pain inhibitor screening system using such gene mutations.SELECTED DRAWING: None 【課題】疼痛に関連する新規な原因遺伝子を同定し、該遺伝子又はその産物を利用して、新規機序に基づく疼痛抑制物質（鎮痛薬）をスクリーニングする手段を提供すること、並びに、SCN11Aと疼痛との関係を明らかにし、以て、疼痛に対する新規かつ有用な創薬ターゲットを提供すること。【解決手段】若年期周期性四肢疼痛を発症する患者家系の連鎖解析及び全ゲノムエクソーム解析を行い、当該家系における家族性の疼痛の原因遺伝子がSCN11Aであり、該遺伝子における特定のアミノ酸残基のコード部位にミスセンス変異が疼痛を誘発することを見出し、これらの遺伝子変異を利用した疼痛抑制物質のスクリーニング系を構築した。【選択図】なし