Sonnenberg (2013)

Kindler Syndrome (KS), mai suna bayan wanda ya fara bayyana shi, Theresa Kindler, wani nau'in EB ne wanda fatar jarirai da yara ba ta da ƙarfi, mai saurin haske kuma mai saurin kamuwa da blisters don amsa rauni. Yayin da majiyyaci ke da shekaru, rashin daidaituwa na launi yana tasowa a cikin fata, gizo-gizo da jijiyar zaren suna faruwa, kuma fata ya zama siriri yana sa ta zama mai rauni. Hakanan za'a iya samun matsaloli tare da rufin baki, asarar gashi na ci gaba, rikicewar hanji da ciwan fata lokaci-lokaci.

KS yana haifar da maye gurbi a cikin kwayar halitta mai suna KIND1 wanda yawanci ke sarrafa samar da furotin kindlin-1. Ɗayan rawar kindlin-1 ita ce kunna ko tada wasu kwayoyin halitta da ake kira integrins waɗanda ke cikin zuciyar yawancin tsarin salula, misali "mutunci" ko jin daɗin ƙwayoyin fata. A KS yana da wahala a fahimci wane bangare na aikin integrin ke da laifi a cikin ƙwayoyin fata.

A cikin wannan binciken, ƙungiyar binciken dole ne ta yi nazarin fannoni daban-daban na matsalar daban: wani ɓangare na binciken an yi niyya don bincika ko wani furotin mai alaƙa, kindlin-2, zai iya rama asarar kindlin-1: sashi na biyu shine bincika ko "sake yin amfani da" na integrins a cikin KS yana faruwa akai-akai.

Sun yi amfani da 'samfurin' dakin gwaje-gwaje wanda ke ba da kyakkyawan kwaikwayon KS. Ƙungiyar binciken ta nuna cewa kindlin-2 na iya ramawa ga asarar kindlin-1, duk da haka matakan yanayi na kindlin-2 da ke cikin marasa lafiya na KS bai isa ba don ramawa ga rashin kindlin-1. Daga nan sai suka gano cewa lokacin da kindlin-1 ya rasa wani bangare na kwayoyin halittar da ke hade da integrin, sunadaran ba su aiki yadda ya kamata a cikin kwayoyin fatar jikin mutum.

Wannan bincike ya amsa wata muhimmiyar tambaya: kindlin-1 asarar a cikin ƙwayoyin fata na KS yana nufin cewa integrins ba a kunna ko sake yin amfani da su yadda ya kamata wanda ke haifar da rashin tsari da rashin ƙarfi na fata, duk da haka matakan halitta na kindlin-2 ba su isa su shawo kan wannan matsala ba. Wannan bayanin yana da kima yayin da masu bincike ke ci gaba da gwadawa da fahimtar lahanin kwayoyin halitta a cikin KS.

"Sakamakon wannan bincike na DEBRA ya kara fahimtar tsarin kwayoyin da ke cikin Kindler Syndrome, wanda zai iya haifar da ci gaba da sababbin hanyoyin magance wannan cuta."

Dr. Arnoud Sonnenberg

Farfesa John McGrath

Dokta Arnoud Sonnenberg shi ne Shugaban Sashen Nazarin Halittu na Kwayoyin Halitta a Cibiyar Ciwon daji ta Netherlands a Amsterdam kuma Farfesa a Jami'ar Leiden. Babban sha'awarsa shine fahimtar mahimmancin integrins wajen daidaita mannewa da siginar sinadarai masu mahimmanci don haɓakawa da bambanta. Yana da sha'awar musamman ga waɗancan integrin waɗanda rashi a cikin mutanen da abin ya shafa ke haifar da junctional epidermolysis bullosa kuma suna taka rawa a cikin ciwon daji na fata. Dokta Sonnenberg ya yi aiki a Cibiyar Salk da Scripps Clinic & Research Foundation a San Diego kuma bayan samun PhD daga Jami'ar Amsterdam, ya kafa ƙungiyar bincike a Leiden.