Neuronal Redox-Imbalance in Rett Syndrome Affects Mitochondria as Well as Cytosol, and Is Accompanied by Intensified Mitochondrial O2 Consumption and ROS Release

In conclusion, we further advanced the molecular understanding of mitochondrial dysfunction in RTT. Intensified mitochondrial O2 consumption, increased mitochondrial ROS generation and disturbed redox balance in mitochondria and cytosol may represent a causal chain, which provokes dysregulated proteins, oxidative tissue damage, and contributes to neuronal network dysfunction in RTT. Introduction Rett syndrome (RTT) is a progressive neurodevelopmental disorder. It primarily affects females, who show the first obvious symptoms within 6–18 months after birth. Among the characteristics are a regression of mental and physical development as well as severe disabilities such as breathing disturbances, loss of speech, autistic features, cognitive impairment, and epilepsy (Rett, 1966; Hagberg et al., 1983; Chahrour and Zoghbi, 2007). In the majority of cases, RTT is caused by spontaneous mutations in the X-chromosomal MECP2 gene encoding for the transcriptional regulator MeCP2 (Amir et al., 1999). Patient and rodent studies confirm that mitochondria are morphologically and functionally affected in RTT (Eeg-Olofsson et al., 1990; Belichenko et al., 2009; Großer et al., 2012; Gold et al., 2014; Park et al., 2014; Valenti et al., 2014; Shulyakova et al., 2017). Human skeletal muscle and frontal lobe biopsy samples revealed swollen mitochondria with vacuolizations and granular inclusions (Ruch et al., 1989; Eeg-Olofsson et al., 1990; Cornford et al., 1994). In male Re...
Source: Frontiers in Physiology - Category: Physiology Source Type: research

Related Links:

Publication date: Available online 3 July 2020Source: The Annals of Thoracic SurgeryAuthor(s): Laura Seese, Sameer Hirji, Ibrahim Sultan, Thomas Gleason, Arman Kilic
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
Publication date: August 2020Source: Infant Behavior and Development, Volume 60Author(s): Anna Gui, Emily J.H. Jones, Chloe C.Y. Wong, Emma Meaburn, Baocong Xia, Greg Pasco, Sarah Lloyd-Fox, Tony Charman, Patrick Bolton, Mark H. Johnson, the BASIS Team
Source: Infant Behavior and Development - Category: Child Development Source Type: research
Publication date: Available online 3 July 2020Source: Journal of Food EngineeringAuthor(s): Paraskevi Paximada, Martin Howarth, Bipro N. Dubey
Source: Journal of Food Engineering - Category: Food Science Source Type: research
Publication date: Available online 3 July 2020Source: Preventive Veterinary MedicineAuthor(s): Daniel Schwarz, Debora E. Santschi, Jean Durocher, Daniel M. Lefebvre
Source: Preventive Veterinary Medicine - Category: Veterinary Research Source Type: research
Publication date: Available online 2 July 2020Source: Preventive Veterinary MedicineAuthor(s): M. Nuntapaitoon, P. Juthamanee, P.K. Theil, P. Tummaruk
Source: Preventive Veterinary Medicine - Category: Veterinary Research Source Type: research
Publication date: Available online 3 July 2020Source: Research in MicrobiologyAuthor(s): Sarita Ahoranta, Hanna Hulkkonen, Turkka Salminen, Pirjo Kuula, Jaakko A. Puhakka, Aino-Maija Lakaniemi
Source: Research in Microbiology - Category: Microbiology Source Type: research
Conclusions: Operative laparoscopy under conscious sedation and local anesthesia appears to be a feasible technique in gynecologic surgery with no adverse patient outcomes. PMID: 32612345 [PubMed - in process]
Source: JSLS : Journal of the Society of Laparoendoscopic Surgeons - Category: Surgery Tags: JSLS Source Type: research
Publication date: Available online 3 July 2020Source: Redox BiologyAuthor(s): Jyotirindra Maity, Moonmoon Deb, Carl Greene, Hiranmoy Das
Source: Redox Biology - Category: Biology Source Type: research
Publication date: Available online 3 July 2020Source: Colloids and Surfaces B: BiointerfacesAuthor(s): Diogo Videira-Quintela, Francisco Guillén, Montalvo, Olga Martin
Source: Colloids and Surfaces B: Biointerfaces - Category: Biochemistry Source Type: research
Publication date: Available online 2 July 2020Source: Journal of Industrial and Engineering ChemistryAuthor(s): Ting Wang, Ling-li Jiang, Lu-lu Huang, Li-guang Wu, Chun-juan Li, Jing Cai
Source: Journal of Industrial and Engineering Chemistry - Category: Chemistry Source Type: research
More News: Allegra | Anesthesia | Anesthesiology | Autism | Biology | Brain | Cardiology | Cerebellum | Chemistry | Disability | Down's Syndrome | Epilepsy | Fluoride | Fragile X Syndrome | Genetics | Georgia Health | Germany Health | Grants | Health Management | Heart | Heart Transplant | Iron | Medical Ethics | Men | Middle East Health | Milk | Mitochondria | Mitochondrial Disease | Molecular Biology | Monaco Health | Nanotechnology | Neuroblastoma | Neurology | Neuroscience | Nutrition | Penicillin | Perinatology & Neonatology | Physiology | Respiratory Medicine | Rett Syndrome | Science | Sodium Chloride | Statistics | Stem Cell Therapy | Stem Cells | Students | Study | Universities & Medical Training | USA Health