This chapter discusses the movement disorders and mitochondrial disease. Mitochondrial disorders present a major dilemma to the clinician, given their massive heterogeneity and the lack of simple diagnostic tests even when the diagnosis is considered. The morphology of mitochondria varies across species ...
1、线粒体疾病mitochondrialdiseases英文版讲义 Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders. Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function. The...
Mitochondrial inheritance:In this unique type of inheritance, the mitochondria contain their own DNA. Only mitochondrial disorders caused by mutations in the mitochondrial DNA are exclusively inherited from mothers. If this is the way a mitochondrial disease ...
Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, myoclonus, dystonia, choreoathetosis, spasticity, tremor,...
Type 2 diabetes mellitus (T2DM) is the most common human endocrine disease and is characterized by peripheral insulin resistance and pancreatic islet β-ce... ZA Ma,Z Zhao,J Turk - 《Experimental Diabetes Research》 被引量: 165发表: 2014年 Endocrine disorders in mitochondrial disease Endocrine ...
In general, the term “mitochondrial disease” refers to those disorders caused by total or partial dysfunction of the mitochondrial electron transport chain coupled to the oxidative phosphorylation (OXPHOS) system. This alteration leads to an energy deficiency in the cell (Hofmann and Bauer, 2006)....
Mitochondrial disorders: Clinical presentation and diagnostic dilemmas Summary: The number of genes known to be involved in mitochondrial energy production and the elucidation of the function of their individual transcripts i... JAM Smeitink - 《Journal of Inherited Metabolic Disease》 被引量: 123发表...
disorders characterised by impaired mitochondrial respiration (Nicholls et al2013; Boczonadi and Horvath2014). Many regulatory factors and pathways are involved in mitochondrial gene expression and establishing the molecular details of how defects in these processes contribute to human disease constitutes ...
F. Mitochondrial disease in adults: what’s old and what’s new? EMBO Mol. Med. 7, 1503–1512 (2015). Article CAS PubMed PubMed Central Google Scholar Gonzalez-Freire, M. et al. The road ahead for health and lifespan interventions. Ageing Res. Rev. 59, 101037 (2020). Article ...
Alzheimer's disease - Neurological or psychiatric disorder? In this respect, we have compared AD with classical psychiatric disorders (schizophrenia, bipolar disorder, obsessive compulsive disorder) and with neurological degenerative disorders (AD, Parkinson's disease, epilepsy, amyotrophic lateral ... A...