Bediye Oztas, Simay Akyuz, Muharrem Oztas, Hikmet Erhan Güven, Kerim Bora Yilmaz
Determination of Diabetes Health Literacy Levels of Patients Followed Up With Diabetic Foot Diagnosis: A Cross-Sectional Descriptive Study
The international journal of lower extremity wounds
aim study better understand genetic architecture pathological mechanisms underlying neurodegeneration idiopathic parkinsons disease ipd hypothesized fraction ipd patients may harbor combination common variants nuclearencoded mitochondrial genes ultimately resulting neurodegeneration used mitochondriaspecific polygenic risk scores mitoprss created pathwayspecific mitoprss using genotype data different ipd casecontrol datasets worldwide including luxembourg parkinsons study 412 ipd patients 576 healthy controls couragepd cohorts 7270 ipd cases 6819 healthy controls cellular models individuals stratified according significant mitoprs subsequently used characterize different aspects mitochondrial function common variants genes regulating oxidative phosphorylation oxphosprs significantly associated higher pd risk independent cohorts luxembourg parkinsons study odds ratio 131114150 pvalue 54e04 couragepd 123118127 pvalue 15e29 functional analyses fibroblasts induced pluripotent stem cellsderived neuronal progenitors revealed significant differences mitochondrial respiration ipd patients high low oxphosprs pvalues 005 clinically ipd patients high oxphosprs significantly earlier age disease onset compared lowrisk patients false discovery rate fdradj pvalue 0015 similar prototypic monogenic forms pd finally ipd patients high oxphosprs responded effectively treatment mitochondrially active ursodeoxycholic acid oxphosprs may provide precision medicine tool stratify ipd patients pathogenic subgroup genetically defined specific mitochondrial impairment making individuals eligible future intelligent clinical trial designs ann neurol 2024