The arrhythmic risk in Kearns–Sayre syndrome: still many questions unanswered

Monte, Francesco Del; Angelini, Filippo; Villar, Anna Maria; Gabbarini, Fulvio

doi:10.1093/europace/euab104

Cited by 2 publications

(1 citation statement)

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“…KSS is a more severe syndrome than cPEO and is mostly associated with m.8993T>G (APT6) deletion. Its main clinical manifestations are progressive external ophthalmoplegia and retinitis pigmentosa, usually occurring before the age of 20 (396)(397)(398)(399). Other symptoms may include mild skeletal muscle weakness, hearing loss, cognitive impaired cognitive function and diabetes.…”

Section: Treatment Of Mitochondrial Diseasesmentioning

confidence: 99%

Common methods in mitochondrial research (Review)

Yin

Shen

2022

Int J Mol Med

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Mitochondrial abnormalities are primarily seen in morphology, structure and function. They can cause damage to organs, including the heart, brain and muscle, by various mechanisms, such as oxidative stress, abnormal energy metabolism, or genetic mutations. Identifying and detecting pathophysiological alterations in mitochondria is the principal means of studying mitochondrial abnormalities. The present study reviewed methods in mitochondrial research and focused on three aspects: Mitochondrial extraction and purification, morphology and structure and function. In addition to classical methods, such as electron microscopy and mitochondrial membrane potential monitoring, newly developed methods, such as mitochondrial ultrastructural determination, mtdNA mutation assays, metabolomics and analyses of regulatory mechanisms, have also been utilized in recent years. These approaches enable the accurate detection of mitochondrial abnormalities and provide guidance for the diagnosis and treatment of related diseases. Contents1. Introduction 2. Extraction and purification of mitochondria 3. determination of mitochondrial morphology and structure 4. determination of mitochondrial function 5.

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Section: Treatment Of Mitochondrial Diseasesmentioning

confidence: 99%