Researchers in the Sabancı University Gözüaçık Lab discovered how and why a genetic and deadly disorder (Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, IBMPFD) occurs. The treatment recommended by the team is based on autophagy, which was the subject of this year's Nobel Prize in medicine.
Working under the supervision of Sabancı University Faculty Member Devrim Gözüaçık, Molecular Biology, Genetics and Bioengineering PhD candidate Öznur Bayraktardiscovered the mechanism responsible for the onset of IBMPFD (Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia), a genetic and fatal disease that begins with muscle and bone weakness, and may lead to permanent disability and dementia. As a possible treatment for certain varieties of this disease, the team recommended a method based on autophagy, which was the subject of this year's Nobel Prize in medicine.
IBMPFD, Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
In addition to IBMPFD, this discovery may lead to a better understanding of disorders including ALS, Parkinson's, Huntingtion's, Lewy Body Dementia and Machado-Joseph Disease, possibly enabling personalized diagnosis and effective treatment. The study is in the pre-clinical phase, and extensive clinical trials will be required before treatments are administered to patients.
The research team led by Dr. Devrim Gözüaçık is composed of Öznur Bayraktar, Özlem Oral, Nur Kocatürk, Yunus Akkoç, Karin Eberhart and Ali Koşar. An article providing the details of the study was published by the team in the October 2016 issue of the international scientific journal PLOS ONE.
About Autophagy, the subject of the 2016 Nobel Prize in Medicine
Autophagy is a new and emerging field in medicine, genetics and molecular cell biology. It has been expanding over the last decade, covering the most important fundamental and clinical research fields. Autophagy is a recycling mechanism for the body, whereby it purges itself of damaged or diseased proteins or mitochondria in cells. This mechanism allows the body to prevent cancer, Alzheimer's and Parkinson's diseases and diabetes while fighting against microorganisms and reinforcing the immune system. Owing to the understanding of the significance of autophagy for human health and in consideration for the extensive body of research on drugs based on autophagy, the 2016 Nobel Prize in Medicine will be awarded to Japanese professor Yoshinori Ohsumi for initiating the seminal research on this subject. Oshumi's prize will be presented in Sweden on December 10. Dr. Gözüaçık's lab is the first and only lab in Turkey that is dedicated to autophagy studies.
PLOS ONE article link: http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0164864
About the Gözüaçık Scientific Research Lab: http://myweb.sabanciuniv.edu/dgozuacik/
EFSUN - Sabancı University Center of Excellence for Functional Surfaces and Interface: http://efsun.sabanciuniv.edu