Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement.
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http://dx.doi.org/10.1016/j.pjnns.2013.09.003 | DOI Listing |
Orphanet J Rare Dis
December 2024
Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321#, Nanjing, 210008, Jiangsu, China.
Background And Objectives: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle. This study provides a comprehensive summary of the clinical symptoms, multisystemic pathogenesis, and genetic characteristics of MELAS syndrome. The aim was to improve comprehension of clinical practice and gain a deeper understanding of the latest pathophysiological theories.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Neurology, Tianjin Huanhu Hospital, Nankai University, Tianjin, China.
Background: MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) is a common subtype of mitochondrial encephalomyopathy. However, few studies have explored the relationship between biochemical markers and prognosis. This study aimed to explore the relationship between clinical and biochemical markers and prognosis of patients with MELAS.
View Article and Find Full Text PDFJ Dig Dis
December 2024
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
The median age of patients at diagnosis of mitochondrial neurogastrointestinal encephalomyopathy was 25 years. The most common neurological symptoms were leukoencephalopathy (83.1%), polyneuropathy (68.
View Article and Find Full Text PDFActa Pharmacol Sin
December 2024
Laboratory of Biochemistry, Structural and Molecular Biology, Department of Pharmacy - Pharmaceutical Sciences, University of Bari "Aldo Moro", 70125, Bari, Italy.
Carnitine O-acetyltransferase (CRAT) is a crucial enzyme involved in mitochondrial energy metabolism. Alterations in CRAT activity have emerged as significant contributors to the pathogenesis of Leigh syndrome and related mitochondrial disorders. In this study we employed an integrated approach combining in silico docking analysis and virtual screening of chemical libraries with subsequent in vitro validation to identify small molecule modulators of the activity of the wild type (WT) CRAT and the p.
View Article and Find Full Text PDFAutophagy
December 2024
Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, London, UK.
Mitochondrial DNA (mtDNA) encodes genes essential for oxidative phosphorylation. The m.3243A>G mutation causes severe disease, including myopathy, lactic acidosis and stroke-like episodes (MELAS) and is the most common pathogenic mtDNA mutation in humans.
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