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Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
Metabolic: Calcifications:57 Fahr's disease or other disturbances of calcium metabolism (hypo- and hyperparathyroidism, pseudohypoparathyroidism).Mitochondrial disease: Leigh's disease (subacute necrotizing encephalopathy).Mitochondrial cytopathies with striatal necrosis.
Mitochondrial Dysfunction in Chronic Disease
Published in Peter M. Tiidus, Rebecca E. K. MacPherson, Paul J. LeBlanc, Andrea R. Josse, The Routledge Handbook on Biochemistry of Exercise, 2020
Christopher Newell, Heather Leduc-Pessah, Aneal Khan, Jane Shearer
Present in almost all eukaryotic cells, the mitochondrion is the organelle responsible for aerobic energy production via cellular respiration. Proper mitochondrial function is vital for metabolic homeostasis of the human body, whereas dysfunctional mitochondria, characterized by loss in the efficiency of the electron transport system and therefore a reduction in energy synthesis, has been linked to the ageing process (12) and a multitude of chronic disease states. These include neurodegenerative diseases (62), cardiovascular diseases (113), diabetes (112), cancers (109), musculoskeletal diseases (96), and gastrointestinal disorders (40), among others. Exercise is a well-known intervention proven to maintain mitochondrial function and density. This chapter highlights our current understanding of how mitochondria are affected by both exercise and chronic disease. There are also primary mitochondrial diseases that are a group of rare diseases which can be caused by mutations to either mitochondrial or nuclear DNA (mtDNA or nDNA) (106); however, these are beyond the scope of this chapter.
Finding a Target
Published in Nathan Keighley, Miraculous Medicines and the Chemistry of Drug Design, 2020
The activities of these organelles and differentiated cells are governed by the specialised membranes. They have unique transport proteins for selective transport of molecules or ions, related to their function. Neurones, example rely on particular transport proteins used to conduct nerve impulses by generating a potential difference (voltage) across the cell membrane by transporting sodium and potassium ions, which gives a difference in charge between the inside of the cell and the tissue fluid outside. Mitochondria undertake aerobic respiration through which chemical energy in the form of ATP is produced through biochemical processes involving the transport of hydrogen ions across specialised membranes. Release of enzymes, other protein moieties, hormones etc. tend to be assisted by transport proteins. The release of insulin from cells of the pancreas to control blood sugar is a notable example because errors that can arise in receptor signalling or transport of this small protein-based hormone lead to the disease diabetes. The cell membranes contain specific receptors needed for a specific response related to cells function in the tissue, such as receptors for insulin to control blood sugar level. Receptor proteins transfer information across the cell membrane rather than ions/molecules. The cell is then able to instigate a response to this information, such as release hormone, neurotransmitter, initiate cell division—whatever response is required. Confusion in cell signalling can therefore obviously lead to problems.
Maternal spindle transfer for mitochondrial disease: lessons to be learnt before extending the method to other conditions?
Published in Human Fertility, 2022
Charalampos Siristatidis, Themis Mantzavinos, Nikos Vlahos
Mitochondrial diseases (mtDNA diseases) are a group of serious conditions often affecting high energy requiring tissues, such as brain, muscle, liver, heart, and the Central Nervous System. They are clinically heterogeneous and may present with a variety of symptoms, such as dementia, deafness, diabetes, stroke, blindness, heart, kidney, and liver failure (Genetic Disease Foundation, 2010; Palacios-González, 2017). They are caused by either mutations in mitochondrial or nuclear genes, directly encoding structural or functional components of the mitochondrion. Reduction in the number of mtDNA copies can also be seen in affected tissues. mtDNA mutations are inherited through a maternal pattern. Affected individuals are ‘heteroplasmic’, carrying a mixture of normal and mutant mitochondria, the levels of which can differ among tissues, while genotype‐phenotype associations usually vary even within families (Gropman, 2001). In contrast, homoplasmic mutations occur in some of the thousands of copies of mtDNA within the same tissue or cell, e.g. oocytes, affecting all mtDNA copies, so that the same mtDNA variant exists in all copies (Marchington, 1998).
Effect of Vitamin B2 supplementation on migraine prophylaxis: a systematic review and meta-analysis
Published in Nutritional Neuroscience, 2022
Yu-Shiue Chen, Huan-Fang Lee, Ching-Hsuan Tsai, Yu-Yun Hsu, Ching-Ju Fang, Chen-Ju Chen, Yu-Hsin Hung, Fang-Wen Hu
Migraine has a tendency to be inherited and is associated with mitochondrial dysfunction. Mitochondrial diseases are a group of inherited diseases that are characterized by defects in oxidative phosphorylation and is caused by gene mutations in nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) [31]. Vitamin B2 or riboflavin, as a non-drug nutrient supplement, is a cofactor in the citric acid cycle and redox reaction in the electron transport chain. Therefore, vitamin B2 plays an important role in energy generation in the mitochondria, and vitamin B2 is used as a potential treatment for mitochondrial diseases affecting energy metabolism [32,33]. Vitamin B2 seems to be a safe and well-tolerated option to prevent migraine symptoms in adults; however, there is currently insufficient evidence to recommend vitamin B2 as an adjuvant treatment for adults with migraine [17]. In 2020, the pain care guidelines in the Cochrane Taiwan website recommended daily administration of 400 mg vitamin B2 (riboflavin) for three continuous months to prevent migraine in adults. The GRADE level of evidence was 1A (strong recommendation, high level of evidence) [34].
Role of Mitochondrial DNA (mtDNA) Variations in Cancer Development: A Systematic Review
Published in Cancer Investigation, 2020
Nisha Thakur, Amitesh Kumar Sharma, Harpreet Singh, Shalini Singh
The mitochondrial chromosome is a closed circular, ds-DNA molecule. The human mtgenome is 1.8 × 10−5 times smaller than the nuclear genome having size of 16,569 bp.The major part of the human mtgenome encrypts 13 protein subunits of the electron transport chain (ETC), two rRNA and twenty twot RNAs genes. The discplacement loop (D-Loop) region is mainly noncoding part of the mtDNA. The maximum transcription of mtDNA takes place in the heavy strand (guanines ‘G’ rich). Though, light strand (cytosine ‘C’ rich) and encodes for eight tRNA and only one protein coding gene. Interestingly, bulk of the mt proteins are encoded by the ncDNA genome and transferred to the mitochondria. Mitochondria are inherited maternally and majority of the cells contain identical copies of mtDNA. Any modification in the mtDNA sequence due to error in the replication and repair mechanism results in disease phenotype and can be of clinical importance (3,4).