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Query: UMLS:C0751651 (mitochondrial disease)
 1,844 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Electron microscopy (EM) is a reliable method for diagnosing mitochondrial diseases in striated muscle biopsy in infancy. Ultrastructural alterations in mitochondria of myofibers are well documented, but there are few studies of endothelial involvement in intramuscular capillaries. Quadriceps femoris biopsies of five representative infants and toddlers, ages neonate to 3.5 years, were performed because of clinical and laboratory data consistent with mitochondrial disease without mitochondrial DNA (mtDNA) mutations and likely with nuclear DNA mutations. Pathological studies included histochemistry, EM, respiratory chain enzymatic assay and mtDNA sequencing and deletion/duplication analysis. EM demonstrated frequent and severe alterations of mitochondria in capillary endothelium. The most constant changes included: either too few or fragmented cristae; stacked and whorled cristae; paracrystallin structures that often were large and spheroid with stress fractures; closely apposed membranes of granular endoplasmic reticulum surrounding mitochondria with loss of the normal intervening layer of cytoplasm; long narrow, thin looped microvilli extending into the lumen; and thick microvilli containing large, abnormal mitochondria. We conclude that mitochondrial cytopathies in early life exhibit more severe ultrastructural alterations in the endothelium than in myofibers and that paracrystallin body structure differs, perhaps due to less rigid surrounding structures. This distribution may explain the frequent lack of prominent histochemical and biochemical abnormalities in muscle biopsies of young patients. Endothelial changes do not distinguish the genetic defects. Vascular involvement in brain contributes to cerebral lesions and neuronal death by impairment of molecular and nutrient transport and ischemia; endothelium in muscle may reflect similar changes.
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PMID:Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: "mitochondrial angiopathy". 2317 91

Background: Although the role of electron microscopy is diminishing in several areas of adult pathology, it remains an essential tool for the study of pediatric liver biopsies.Methods: Clinical charts, histologic slides and EM materials of native liver biopsies from patients <1 year old (1991-2017) were reviewed.Results: 677 biopsies were performed on 353 males and 324 females. This study presents the concrete numbers for both the indications and the diseases, and describes the role of EM. EM was performed on 24.7% of liver biopsies and demonstrated key pathologic findings in 10 cases (6%), which led to the appropriate biochemical and/or genetic testing to confirm the diagnoses. The cases included five cases of glycogen storage disease with characteristic findings with cytoplasmic glycogen accumulation, two cases of mitochondrial disorder with pleomorphic mitochondria with crystalloid inclusions and one case each of Niemann-Pick Disease with abundant myelinosomes, Alpha-1 antitrypsin deficiency with deposits in the endoplasmic reticulum and infantile Refsum disease with trilamellar inclusions and lack of peroxisomes. In this study, we describe the detailed histologic and EM findings of each case .Conclusion: EM played an important screening and diagnostic role in the challenging cases and was also used to rule out detectable pathologic conditions.
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PMID:Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017). 3190 39

SARS-CoV-2 is a novel betacoronavirus that has caused the global health crisis known as COVID-19. The implications of mitochondrial dysfunction with COVID-19 are discussed as well as deregulated mitochondria and inter-organelle functions as a posited comorbidity enhancing detrimental outcomes. Many environmental chemicals (ECs) and endocrine-disrupting chemicals can do damage to mitochondria and cause mitochondrial dysfunction. During infection, SARS-CoV-2 via its binding target ACE2 and TMPRSS2 can disrupt mitochondrial function. Viral genomic RNA and structural proteins may also affect the normal function of the mitochondria-endoplasmic reticulum-Golgi apparatus. Drugs considered for treatment of COVID-19 should consider effects on organelles including mitochondria functions. Mitochondrial self-balance and clearance via mitophagy are important in SARS-CoV-2 infection, which indicate monitoring and protection of mitochondria against SARS-CoV-2 are important. Mitochondrial metabolomic analysis may provide new indicators of COVID-19 prognosis. A better understanding of the role of mitochondria during SARS-CoV-2 infection may help to improve intervention therapies and better protect mitochondrial disease patients from pathogens as well as people living with poor nutrition and elevated levels of socioeconomic stress and ECs.
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PMID:Susceptibility to COVID-19 in populations with health disparities: Posited involvement of mitochondrial disorder, socioeconomic stress, and pollutants. 3290 55