Parkinson’s disease (PD) is a heterogeneous, clinicopathologically defined neurodegenerative disorder, with an age-dependent incidence and a rapidly rising global prevalence1. More than 95% of affected individuals, in most populations, have idiopathic forms of PD (iPD), i.e., not of monogenic o...
Mitochondrial energy metabolism disorder is one of the important reasons of leukodystrophy. Mutations of mitochondrial complex I genes have been implicated in more common neurological disorders such as Leigh syndrome. We describe a case of a child manifested as regression of mental and motor development...
Mitochondrial diseases are chronic (long-term), genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly. (Inherited means the disorder was passed on from parents to children.) Mitocho...
The NDUFV1 knockdown-induced blockage of insulin signaling was released by protein-tyrosine phosphatase 1B knockdown in C2C12 myotubes, and we found that NDUFV1 or SIRT1 knockdown did not affect mitochondria biogenesis during C2C12 myogenesis. Based on these data, we can conclude that complex I ...
Complex I dysfunction is the most common oxidative phosphorylation (OXPHOS) disorder in humans and defects in the complex I assembly process are often observed. This assembly process has been difficult to characterize because of its large size, the lack of a high resolution structure for complex I...
FAT IMPROVES MITOCHONDRIAL PERFORMANCE IN A RESPIRATORY CHAIN DISORDER(COMPLEX I DEFICIENCY). |[dagger]| 848Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology...
Mechanistic target of rapamycin complex 1 (mTORC1). A kinase that is part of the mTOR complex, which is a master regulator of anabolic biosynthesis. Liver ketogenesis Hepatic synthesis of ketone bodies, which is typically induced by fasting and provides tissues with fuel in low-nutrient conditions...
Mitochondrial metabolic disorder is one of the important pathogeneses of DCM [44], while Pdk4, Hmgcs2, Decr1, and Ivd are enzymes essential for mitochondrial metabolism. In DCM, the most significant metabolic disorders in myocardial tissues are decreased glucose utilization and increased fatty acid...
The transfer of whole mitochondria that occurs during cell contact has been found to support cancer progression. However, the regulatory role of mitochondria alone is difficult to elucidate due to the complex microenvironment. Currently, mitochondrial tr
Recently, mutations in nuclear complex I genes have been identified in patients with Leigh syndrome. The disease-causing genes (NDUFS8 [MIM 602141], NDUFS4 [MIM 602694], NDUFS7 [MIM 601825], and NDUFV1 [MIM 161015]) (Loeffen et al. 2000) are highly conserved across species and play ...