Publications by authors named "R Rodenburg"
Traditional classification by clinical phenotype or oxidative phosphorylation (OXPHOS) complex deficiencies often fails to clarify complex genotype-phenotype correlations in mitochondrial disease. A multimodal functional assessment may better reveal underlying disease patterns. Using imaging flow cytometry (IFC), we evaluated mitochondrial fragmentation, swelling, membrane potential, reactive oxygen species (ROS) production, and mitochondrial mass in fibroblasts from 31 mitochondrial disease patients.
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- The case involves a Chinese boy with biallelic COQ6 variants who developed familial thrombotic microangiopathy (TMA) and experienced severe kidney issues from a young age.
- He presented with multiple health challenges, including steroid-resistant nephrotic syndrome, hypertension, and signs of TMA, which were exacerbated following a viral infection.
- Despite initially being treated with plasma exchanges and eculizumab, he faced a relapse; however, after adjusting his treatment to include ubiquinol and vitamins, he has been relapse-free for four years, while genetic analysis linked his condition to variants also found in his deceased sister.
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours arising from chromaffin cells. Pathogenic variants in the gene are associated with malignancy and poor prognosis. When metastases arise, limited treatment options are available.
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- * Research identified two genetic variants (P114T and L128V) in patients suspected of mitochondrial disease, which result in less stable SIRT5 protein and lower activity without creating new harmful effects.
- * A mouse model mimicking the P114T mutation demonstrates reduced SIRT5 levels, but does not show significant metabolic or neurological issues, suggesting that these genetic variants alone are unlikely to be the main cause of the neurological problems in patients.
Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of ION, the underlying genetic variants remain unknown.
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