Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

Vela-Sebastián, Ana; López‐Gallardo, Ester; Emperador, Sonia; Hernández-Ainsa, Carmen; Pacheu-Grau, David; Blanco, Ignacio; A, Ros; Pascual-Benito, Ester; Rabaneda-Lombarte, Neus; Presas-Rodríguez, Silvia; García-Robles, Pilar; Montoya, Julio; Ruiz‐Pesini, Eduardo

doi:10.1111/cge.14189

Cited by 3 publications

(1 citation statement)

References 23 publications

(44 reference statements)

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“…Also unaffected carriers of LHON-inducing mtDNA mutations can be easily found in the families with LHON patients [85][86][87][88], from which could be further inferred that LHON-inducing mtDNA mutations do not seem to be critical for the functioning of mitochondria. Therefore, several studies have been conducted to discover the triggers of symptom expression [89][90][91][92][93][94], but the underlying factors of LHON remain elusive.…”

Section: Neurological Symptoms Cardiac Dysfunction Dyspraxiamentioning

confidence: 99%

Clinical Approaches for Mitochondrial Diseases

Hong,

Kim,

Kim

et al. 2023

Cells

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Mitochondria are subcontractors dedicated to energy production within cells. In human mitochondria, almost all mitochondrial proteins originate from the nucleus, except for 13 subunit proteins that make up the crucial system required to perform ‘oxidative phosphorylation (OX PHOS)’, which are expressed by the mitochondria’s self-contained DNA. Mitochondrial DNA (mtDNA) also encodes 2 rRNA and 22 tRNA species. Mitochondrial DNA replicates almost autonomously, independent of the nucleus, and its heredity follows a non-Mendelian pattern, exclusively passing from mother to children. Numerous studies have identified mtDNA mutation-related genetic diseases. The consequences of various types of mtDNA mutations, including insertions, deletions, and single base-pair mutations, are studied to reveal their relationship to mitochondrial diseases. Most mitochondrial diseases exhibit fatal symptoms, leading to ongoing therapeutic research with diverse approaches such as stimulating the defective OXPHOS system, mitochondrial replacement, and allotropic expression of defective enzymes. This review provides detailed information on two topics: (1) mitochondrial diseases caused by mtDNA mutations, and (2) the mechanisms of current treatments for mitochondrial diseases and clinical trials.

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Section: Neurological Symptoms Cardiac Dysfunction Dyspraxiamentioning

confidence: 99%

Clinical Approaches for Mitochondrial Diseases

Hong,

Kim,

Kim

et al. 2023

Cells

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Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

et al. 2022

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Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.

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Bilateral visual impairment in a middle-aged female after bariatric surgery, A case report

Wang,

Pan,

Liu

2024

Preprint

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Background: Nutritional optic neuropathy (NON) is a rare eye disease, similar to toxic optic neuropathy and hereditary optic neuropathy, meaning that it is easily misdiagnosed at early-stage. This report described a rare case of optic neuropathy due to nutritional deficiency following bariatric surgery. Case presentation: A 44-year-old female patient presented to our department complaining for blurred vision in the left eye for 2 years, accompanied by blurred vision in the right eye for 6 months, who performed bariatric surgery in 2007. Upon examination, her best corrected visual acuity (BCVA) was 20/50 in the right eye and 20/200 in the left eye. Intraocular pressure (IOP) was 17 mmHg in the right eye and 16 mmHg in the left eye. Anterior segment examination of both eyes was unremarkable, and a intraocular lens (IOL) was observed with a left relative afferent pupillary defect (RAPD). Color fundus photography showed the optic disc structure of both eyes was basically normal. However, the OCT-macula showed diffuse thinning of the ganglion cell layer. Visual field testing demonstrated a noticeable central scotoma in both eyes. Laboratory findings included abnormal blood potassium, vitamin D2, vitamin D3, and vitamin B7. Other parameterssuch as vitamin B12 and folate showed basical normalities. Computed tomography and magnetic resonance imaging of brain and orbits revealed no apparent abnormalities. In addition, visual evoked potentials of both eyes was basically normal. The medical history included nutritional disorders, anaemia and electrolyte disturbance, and her BMI was 16.0 kg/m²at present. Therefore, a clinical diagnosis of NON was made. After 6 weeks of treatment with nutrition supplements, the BCVA was 20/20 in the right eye and 20/25 in the left eye, and the central scotoma in both eyes also improved significantly. Conclusions: NON was a rare eye disease in clinical practice, but the medical history along with systemic and fundus examinations could help establish the diagnosis. Timely treatment is crucial for maximizing visual outcomes.

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Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

Cited by 3 publications

References 23 publications

Clinical Approaches for Mitochondrial Diseases

Clinical Approaches for Mitochondrial Diseases

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

Bilateral visual impairment in a middle-aged female after bariatric surgery, A case report

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