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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.
Pleasurable emotional response to music: A case of neurodegenerative generalized auditory agnosia
Published in Howard J. Rosen, Robert W. Levenson, Neurocase, 2020
Brandy R. Matthews, Chiung-Chih Chang, Mary De May, John Engstrom, Bruce L. Miller
In the 2 months preceding his evaluation at our medical center, JS recognized progression of his difficulty understanding spoken language. Findings in September 2001 included a requirement of written instructions for most portions of the examination and prominent visual field deficits, sparing only the right superior quadrant bilaterally. As part of his evaluation, JS underwent brain, nerve, and muscle biopsy. The specimens revealed normal right frontal cortex and white matter with multiple staining techniques. The right sural nerve biopsy demonstrated changes consistent with a mixed demyelinating and axonal neuropathy with occasional abnormal mitochondria in Schwann cells on electron microscopy. A right quadriceps muscle biopsy demonstrated slightly increased numbers of mitochondria on both NADH and SDH staining and subtle mitochondrial hyperplasia and hyper-trophy associated with increased glycogen. All biopsy specimens were non-diagnostic. Genetic testing for the presumptive diagnosis of mitochondrial disease was unrevealing.
The epidemiology and mutation types of Leber’s hereditary optic neuropathy in Thailand
Published in Annals of Medicine, 2022
Kanchalika Sathianvichitr, Benjaporn Sigkaman, Niphon Chirapapaisan, Poramaet Laowanapiban, Tanyatuth Padungkiatsagul, Supanut Apinyawasisuk, Juthamat Witthayaweerasak, Wanicha Chuenkongkaew
In recent years, genetic testing has played a crucial role in LHON diagnosis. The testing focuses on three common mutations, G11778A, T14484C, and G3460A, which account for more than 95% of cases [6]. These missense mutations occur in mitochondrial DNA (mtDNA). They code a subunit of the respiratory chain complex I, leading to free radical accumulation and cell apoptosis [6]. Another positive attribute of genetic testing is its prognostic capability. While the G11778A mutation produces the most severe visual loss with the poorest recovery, the visual loss caused by T14484C has the best chance of recovery. In contrast to other mitochondrial diseases, maternal inheritance in LHON patients manifest incomplete penetration and a male predominance. The reasons for this are not well established. Several studies [7–9] proposed that environmental factors such as smoking and alcohol consumption, hormonal factors and genetic modifiers including secondary mutations and haplogroup status are involved.
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].