Lahadi 1 (2017)

Mafi girman fata na fata, epidermis, an haɗa shi da Layer na ƙasa, dermis, ta nau'in sunadaran; wasu daga cikin mafi mahimmanci suna cikin dangin collagens. A cikin dystrophic epidermolysis bullosa (DEB), akwai kuskuren kwayoyin halitta (kuskure) a cikin tsarin nau'in collagen na VII, kuma musamman, raguwa, canzawa ko rashi nau'in VII collagen ya kasa shiga cikin epidermis da dermis tare kamar yadda ya kamata. , tare da sakamakon cewa mutanen da ke da DEB suna da fata mai rauni wanda ke da wuyar yin blister.

Ana kiran kwayar halittar da ke sarrafa nau'in collagen na VII a cikin kwayoyin fata COL7A1. Kimanin kashi 10% na maye gurbi (kuskure) a ciki COL7A1 yana haifar da gajeriyar nau'in furotin collagen VII, wanda ba zai iya aiki yadda ya kamata ba. Bayanan da ke kunshe a cikin kwayoyin halitta suna 'karanta' ta wasu kwayoyin halitta; wannan sai ya jagoranci taron abubuwan da ake buƙata na gina jiki don gina jiki kuma yana tabbatar da an haɗa su tare a daidai tsari. Canje-canje COL7A1 yana da siginar 'tsayawa' a cikin kwayar halitta, wanda bai kamata ya kasance a can ba, tare da sakamakon cewa tsarin karatun da haɗuwa da sunadaran suna tsayawa a takaice. Yanzu akwai mahadi na labari waɗanda idan aka shigar da su cikin tantanin halitta suna ba da damar yin watsi da wannan siginar tasha kuma ana iya haɗa nau'in nau'in collagen na yau da kullun na VII (duk da maye gurbi ko kuskure a cikin kwayar halitta).

Wannan rukunin yana binciken Amlexanox; FDA (Hukumar Abinci da Magunguna ta Amurka) ta amince da magani (don wasu alamu) don ikonta na dawo da furotin da ya ɓace a cikin sel waɗanda ke ware daga marasa lafiya na dystrophic epidermolysis bullosa (RDEB) tare da wani nau'in COL7A1 maye gurbi, wanda ake kira premature termination codon (PTC). Wannan binciken ya nuna cewa Amlexanox yana taimakawa wajen samar da cikakken furotin (nau'in VII collagen), kuma sakamakon ya nuna cewa wannan furotin yana aiki (yana aiki daidai a cikin fata). A wasu kalmomi, furotin da Amlexanox ya haifar zai iya zama da amfani ga marasa lafiya tare da PTC a cikin su. COL7A1.

Adadin nau'in nau'in collagen na VII wanda ke haifar da maganin Amlexanox a cikin ƙwayoyin marasa lafiya na RDEB yana da ƙananan ƙananan idan aka kwatanta da waɗanda ba RDEB ba, amma sakamakon yana ƙarfafawa da aka ba da irin wannan nau'in VII collagen yana da kwanciyar hankali kuma yana iya yiwuwar tarawa a cikin fata na marasa lafiya. a lokacin jiyya. A halin yanzu ana bincika kwanciyar hankali na furotin da magani na dogon lokaci na ƙwayoyin marasa lafiya. Wannan rukunin yana da kyakkyawan fata game da yuwuwar fa'idar Amlexanox don kula da marasa lafiya na RDEB tun lokacin da wannan magani a halin yanzu yana cikin amfani da asibiti don wasu cututtuka, an jure shi sosai, kuma an kafa tasirin sa a cikin jiki. Bugu da ƙari kuma, miyagun ƙwayoyi yana da kaddarorin anti-mai kumburi wanda zai iya ƙara amfanar marasa lafiya. Har ila yau, wannan binciken yana nazarin tsarin da Amlexanox ke haifar da nau'in nau'in nau'in collagen na VII da kuma ko zai yiwu a yi la'akari da wace marasa lafiya za su amfana daga wannan hanya, don haka za a iya ba da magani ga waɗanda suka fi bukata.

"Taimakon DEBRA zai ba da damar yin amfani da wannan tsarin kulawa, idan an nuna cewa ya yi nasara a cikin karatunmu na yau da kullum, don zama mai dacewa ga kulawa da haƙuri."

Farfesa Jouni Uitto

 

Farfesa Jouni Uitto

Jouni Uitto, MD, PhD, ya kasance Farfesa kuma Shugaban Ma'aikatar Kula da cututtukan fata da Cutaneous Biology, kuma Daraktan Cibiyar Nazarin Kwayoyin Halitta ta Jefferson a Jami'ar Thomas Jefferson, Philadelphia, tun daga 1986. Abubuwan bincikensa na farko sun shafi cututtuka na fata masu gado. ciki har da dystrophic epidermolysis bullosa (DEB). Ƙungiyar sa ita ce ta farko da ta ƙaddamar da nau'in nau'in VII collagen gene, gano maye gurbin DEB, da kuma yin gwajin farko na haihuwa a EB. Shi da masu haɗin gwiwarsa sun haɓaka ƙirar linzamin kwamfuta na farko na DEB wanda ya zama dandamali don gwajin daidaitaccen tsarin hanyoyin jiyya, gami da kwayoyin halitta, furotin da hanyoyin kwantar da hankali.