Results 31 to 40 of about 162,948 (264)
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1993 The rate of advance of our understanding of mitochondrial pathology continues to accelerate. Trends in genotype-phenotype correlations in mitochondrial DNA mutations continue to be developed; the latest of these is the association of exercise intolerance with cytochrome b mutations and onset in infancy of multisystem disorders associated with ...
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Noncompaction in Mitochondrial Disorders [PDF]
Circulation Research, 2017 With interest, we read the article by Towbin and Jefferies about left ventricular noncompaction (LVNC) in patients with inborn errors of metabolism (mitochondrial disorders [MIDs], and storage diseases).1 We have the following comments and concerns. The authors describe noncompaction in MIDs, such as mitochondrial encephalopathy, lactic acidosis, and ...
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Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
Molecular Genetics & Genomic Medicine, 2023 Background Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies.
Kristina Grigalionienė +4 more
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Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Introduction Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). Although statins are the cornerstone of lipid‐lowering therapy, their use may be limited in some patients by adverse effects. This study evaluated the possible impact of non‐drug treatment using double‐filtration plasmapheresis (DFPP) on CD14+
Yun Cheng +3 more
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JIMD Reports, 2019 In the era of genomics, the number of genes linked to mitochondrial disease has been quickly growing, producing massive knowledge on mitochondrial biochemistry.
Margarida Paiva Coelho +6 more
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Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system
FEBS Letters, EarlyView.Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
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FEBS Letters, EarlyView.Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
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Neuroimaging in Mitochondrial Disorders [PDF]
Neurotherapeutics, 2013 Mutations in either nuclear DNA or mitochondrial DNA can result in disruption of oxidative phosphorylation and lead to mitochondrial dysfunction. Mitochondrial disease manifestations occur predominantly in the central nervous system, peripheral nervous system, and/or involve several organ systems.
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Treatment for mitochondrial disorders [PDF]
Cochrane Database of Systematic Reviews, 2012 Mitochondrial respiratory chain disorders are the most prevalent group of inherited neurometabolic diseases. They present with central and peripheral neurological features usually in association with other organ involvement including the eye, the heart, the liver, and kidneys, diabetes mellitus and sensorineural deafness.
Gerald, Pfeffer +4 more
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Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential
FEBS Letters, EarlyView.Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta +3 more
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