Introduction: Hypocretin is a neuropeptide regulating sleep-wake cycle, as well as feeding behavior. Interestingly, a subset of NT1 patients become overweight/obese, with a high prevalence of dysmetabolic phenotype. Thus, we undertook the first analysis of mitochondrial DNA (mtDNA) haplogroups in patients well characterized for their metabolic features. Materials and methods: We included the DNA of 246 NT1 patients. For the haplogroups identification was sequenced the non-coding region of mtDNA, the control region, and the haplogroups markers on coding region investigated by RFLP. Results: Data showed an association between metabolic syndrome and haplogroup K (64.3%, P=0.008, OR/95% CI=4.58/1.39-15.1), decreasing after correction for age (OR/95% CI=2.09/0.66-6.65), probably due to an age effect. Furthermore, the low HDL level showed a trend towards with haplogroups J (83,3%, P=0.099, OR/95% CI=6.06/1.24-29.7 after age adjustment 6.73/0.65-69.9). Finally, both haplogroups J and K were associated (61.5% and 61.5%, P=0.028) with the hypertriglyceridemia Discussion: In conclusion, our study provides clues indicating that mtDNA haplogroups J and K might modulate metabolic features of NT1 patients. To finally linking mtDNA backgrounds with metabolic alterations, it would be necessary to validate the data in a larger cohort, and analyzing the complete mitochondrial genome.
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1
Marco Filardi;
2019-01-01
Abstract
Introduction: Hypocretin is a neuropeptide regulating sleep-wake cycle, as well as feeding behavior. Interestingly, a subset of NT1 patients become overweight/obese, with a high prevalence of dysmetabolic phenotype. Thus, we undertook the first analysis of mitochondrial DNA (mtDNA) haplogroups in patients well characterized for their metabolic features. Materials and methods: We included the DNA of 246 NT1 patients. For the haplogroups identification was sequenced the non-coding region of mtDNA, the control region, and the haplogroups markers on coding region investigated by RFLP. Results: Data showed an association between metabolic syndrome and haplogroup K (64.3%, P=0.008, OR/95% CI=4.58/1.39-15.1), decreasing after correction for age (OR/95% CI=2.09/0.66-6.65), probably due to an age effect. Furthermore, the low HDL level showed a trend towards with haplogroups J (83,3%, P=0.099, OR/95% CI=6.06/1.24-29.7 after age adjustment 6.73/0.65-69.9). Finally, both haplogroups J and K were associated (61.5% and 61.5%, P=0.028) with the hypertriglyceridemia Discussion: In conclusion, our study provides clues indicating that mtDNA haplogroups J and K might modulate metabolic features of NT1 patients. To finally linking mtDNA backgrounds with metabolic alterations, it would be necessary to validate the data in a larger cohort, and analyzing the complete mitochondrial genome.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
