When to think about mitochondrial disease

Ng, Yi Shiau; Turnbull, D.M.

doi:10.1136/practneurol-2020-002501

Cited by 5 publications

(2 citation statements)

References 15 publications

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“…There is no cure for inherited mtDNA diseases, and for the vast majority of patients, therapy is limited to the early detection and alleviation of symptoms. 5 …”

Section: Mitochondria: “Power Plants” Of the Cellmentioning

confidence: 99%

Mitochondrial Replacement Therapy: In Whose Interests?

Noohi

Ravitsky

Knoppers

et al. 2022

J. Law. Med. Ethics

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Mitochondrial replacement therapy (MRT), also called nuclear genome transfer and mitochondrial donation, is a new technique that can be used to prevent the transmission of mitochondrial DNA diseases. Apart from the United Kingdom, the first country to approve MRT in 2015, Australia became the second country with a clear regulatory path for the clinical applications of this technique in 2021. The rapidly evolving clinical landscape of MRT makes the elaboration and evaluation of the responsible use of this technology a pressing matter. As jurisdictions with less strict or non-existent reproductive laws are continuing to use MRT in the clinical context, the need to address the underlying ethical issues surrounding MRT’s clinical translation is fundamental.

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“…There is no cure for inherited mtDNA diseases, and for the vast majority of patients, therapy is limited to the early detection and alleviation of symptoms. 5 …”

Section: Mitochondria: “Power Plants” Of the Cellmentioning

confidence: 99%

Mitochondrial Replacement Therapy: In Whose Interests?

Noohi

Ravitsky

Knoppers

et al. 2022

J. Law. Med. Ethics

View full text Add to dashboard Cite

show abstract

“…Mitochondria is also the key place where ROS is produced [ 16 ]; they play a central role in the onset and progression of the disease. When mitochondria undergo oxidative stress, dysfunction occurs, leading to various diseases [ 17 ]. Many studies have reported the effective mitochondrial damage treatment for Parkin disease [ 18 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

The Protective Effect of Lycium Ruthenicum Murr Anthocyanins in Cr (VI)-Induced Mitophagy in DF-1 Cells

Guo

et al. 2022

Life

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Cr (VI) is an extremely toxic environment and professional pollutant that seriously damages mitochondrial dysfunction when it enters a cell. Anthocyanins possess anti-oxidant, antiaging, and antifatigue properties. The regulatory effect of Lycium ruthenicum Murr anthocyanin (LRMA) on Cr (VI)-induced mitophagy in DF-1 cells was determined. The experimental design was divided into blank group, groups subjected to Cr (VI) and Cr (VI), and LRMA co-treatment groups. Cell viability was determined by the CCK-8 assay. Mitochondrial membrane potential (MMP) and reactive oxygen species (ROS) were assessed by flow cytometry and immunofluorescence. Mitophagy was monitored by ELISA and Western blot. Data showed that Cr (VI) caused the overexpression of autophagy-related proteins (LC3, Beclin-1) and reduced the expressions of autophagy protein p62 and TOMM20. Compared with the Cr (VI) group, the LRMA group showed considerably decreased mitochondrial damage and mitophagy. LRMA decreased the mitochondrial protein expression of PINK1 and Parkin’s transfer from the cytoplasm to mitochondria. LRMA may confer protective effects by reducing PINK1/Parkin-mediated mitophagy in Cr (VI)-induced DF-1 cell models.

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Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C

et al. 2021

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IntroductionMitochondrial diseases exhibit wide phenotypic heterogeneity, and can present as progressive myoclonic epilepsy.SummaryWe report a case of adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies due to m.14487T>C, a rare mitochondrial gene mutation identified on whole-genome sequencing. This mutation, which affects the NADH dehydrogenase 6 (ND6) subunit of the mitochondrial respiratory chain, is most commonly implicated in cases of infantile-onset Leigh syndrome, although a broader phenotypic spectrum including migraine with aura and progressive myoclonic epilepsy have been described. Serial MRI scans over a 2-year period demonstrated the interval development of bihemispheric stroke-like lesions. Giant somatosensory evoked potentials and short-duration myoclonic jerks with craniocaudal spread on surface electromyography were consistent with cortical myoclonus. Optical coherence tomography showed bilateral symmetric thinning of the nerve fibre layer in the papillomacular bundles.ConclusionWhole-genome sequencing can help to provide a definitive diagnosis for mitochondrial disease and should be considered in situations where clinical suspicion remains high despite normal genetic panels or muscle histopathology. Mitochondrial disease can present as adult-onset progressive myoclonic epilepsy, and bilateral optic neuropathies can be a striking feature of ND6 mitochondrial gene mutations. In our case, severe cortical myoclonus affecting speech and swallowing remained highly drug-resistant, however, symptomatic benefit was derived from targeted onabotulinum toxin A injections.

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When to think about mitochondrial disease

Cited by 5 publications

References 15 publications

Mitochondrial Replacement Therapy: In Whose Interests?

Mitochondrial Replacement Therapy: In Whose Interests?

The Protective Effect of Lycium Ruthenicum Murr Anthocyanins in Cr (VI)-Induced Mitophagy in DF-1 Cells

Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C

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