Personalized Prevention in Mercury-Induced Amyotrophic Lateral Sclerosis: A Case Report

Magnavita, Nicola; Sabatelli, Mario; Scoditti, Egeria; Chirico, Francesco

doi:10.3390/app10217839

Cited by 5 publications

(6 citation statements)

References 69 publications

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“…Forty‐two related papers [6, 7, 22–61] were summarized and it was found that 178 of 9814 patients with ALS/FTD carried TBK1 variants, including 95 patients carrying LoF variants and 83 patients carrying missense variants (Table S4). Therefore, a meta‐analysis was performed of the frequency of TBK1 variants reported in ALS/FTD patients (Figure 3).…”

Section: Resultsmentioning

confidence: 99%

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features

Zhao

Jiang

Lin

et al. 2023

Euro J of Neurology

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Background and purposeHaploinsufficiency of TANK‐binding kinase 1 (TBK1) loss‐of‐function (LoF) variants has been shown to be pathogenic in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the genetic spectrum of TBK1 and clinical features of ALS patients with TBK1 variants remain largely unknown in Asians.MethodsGenetic analysis was performed on 2011 Chinese ALS patients. Software was used to predict the deleteriousness of missense variants in TBK1. In addition, PubMed, Embase and Web of Science were searched for related literature.ResultsTwenty‐six TBK1 variants were identified in 33 of 2011 ALS patients, including six novel LoF variants (0.3%) and 20 rare missense variants, 12 of which were predicted to be deleterious (0.6%). In addition to TBK1 variants, 11 patients had other ALS‐related gene variants. Forty‐two previous studies found that the frequency of TBK1 variants was 1.81% in ALS/FTD patients. The frequency of TBK1 LoF variants in ALS was 0.5% (Asians 0.4%; Caucasian 0.6%) and that of missense variants was 0.8% (Asians 1.0%; Caucasian 0.8%). ALS patients with TBK1 LoF variants affecting the kinase domain had a significantly younger age of onset than patients carrying LoF variants affecting the coiled coil domains CCD1 and CCD2. FTD has a frequency of 10% in Caucasian ALS patients with TBK1 LoF variants, which was not found in our cohort.ConclusionOur study expanded the genotypic spectrum of ALS patients with TBK1 variants and found that the clinical manifestations of TBK1 carriers are diverse.

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Section: Resultsmentioning

confidence: 99%

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features

Zhao

Jiang

Lin

et al. 2023

Euro J of Neurology

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“…A notable case report revealed an older man diagnosed with ALS, who had a history of chronic mercury exposure at his workplace. Further genetic testing unveiled a mutation in the TBK1 gene linked to ALS, providing a possible link between mercury exposure and neurodegenerative diseases. , Additionally, a systems biology investigation conducted on hippocampus cells exposed to methylmercury has indicated substantial alterations in proteins associated with prolonged exposure. These findings shed light on potential connections between mercury exposure and neurodegenerative conditions such as Parkinson’s disease (PD) and Alzheimer’s disease (AD) …”

Section: Mercury Toxicity On Human Health: Effects and Molecular Mech...mentioning

confidence: 99%

The Toxicity of Mercury and Its Chemical Compounds: Molecular Mechanisms and Environmental and Human Health Implications: A Comprehensive Review

Wu,

Osman,

Hosny

et al. 2024

ACS Omega

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Mercury is a type of hazardous and toxic pollutant that can result in detrimental effects on the environment and human health. This review is aimed at discussing the state-of-the-art progress on the recent developments on the toxicity of mercury and its chemical compounds. More than 210 recent works of literature are covered in this review. It first delineates the types (covering elemental mercury, inorganic mercury compounds, organic mercury compounds), structures, and sources of mercury. It then discusses the pharmacokinetic profile of mercury, molecular mechanisms of mercury toxicity, and clinical manifestation of acute and chronic mercury toxicity to public health. It also elucidates the mercury toxicity to the environment and human health in detail, covering ecotoxicity, neurotoxicity diseases, neurological diseases, genotoxicity and gene regulation, immunogenicity, pregnancy and reproductive system damage, cancer promotion, cardiotoxicity, pulmonary diseases, and renal disease. In order to mitigate the adverse effects of mercury, strategies to overcome mercury toxicity are recommended. Finally, some future perspectives are provided in order to advance this field of research in the future.

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“…The occupational risk from metallic mercury is always combined with exposure to organic mercury present in the ecosphere, and genetic factors are critical in determining risk sensitivity or resistance. A case study is reported in which the presence of a genetic alteration in a maintenance worker from a chlor-alkali plant was associated with the recurrence of episodes of subacute mercury intoxication and finally with the appearance of amyotrophic lateral sclerosis [4].…”

Section: Knowledge On Individual Risk Factorsmentioning

confidence: 99%

New and Emerging Risk Factors in Occupational Health

Magnavita

Chirico

2020

Applied Sciences

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Workplace health and safety is constantly evolving both in developed and developing countries. Under the tumultuous development of technology, working environments are changing, leading to the onset of new occupational hazards and unprecedented risk conditions deriving from the new ways of organizing work. At the same time, progress in medical science, with the knowledge in the fields of genetics, metabolomics, big data, and smart technologies, makes it possible to promptly identify and treat risk conditions that would have escaped notice in the past. Personalized occupational medicine represents the frontier of prevention in the workplace, from the perspective of total worker health and the sustainability of resources. The contributions to this Special Issue range from chemical, physical, and biological to psychosocial risks, and from the search for new ways to control long-known risks, such as mercury toxicity, to observations of the most frequent pathologies in the workplace in the last twenty years, such as repetitive trauma diseases, immunodeficiency transmitted as a result of biological injuries, and violence and psychological trauma in the workplace. New insights are needed in occupational health and safety practice to address the new challenges in this field.

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Personalized Prevention in Mercury-Induced Amyotrophic Lateral Sclerosis: A Case Report

Cited by 5 publications

References 69 publications

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features

The Toxicity of Mercury and Its Chemical Compounds: Molecular Mechanisms and Environmental and Human Health Implications: A Comprehensive Review

New and Emerging Risk Factors in Occupational Health

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