Response to different therapeutic approaches in Wilson disease. A long-term follow up study

Rodríguez, Beatriz García; Burguera, J.A.; Berenguer, Marina

doi:10.1016/s1665-2681(19)31417-6

Cited by 16 publications

(23 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Copper-chelating agents are the main treatment option for patients with WD, but they have side effects, and the responsiveness to this therapy varies, 16, 169 necessitating adjunctive or alternative therapies. Lifestyle modifications that support mitochondrial function might be valuable in the treatment of WD, because such patients develop mitochondrial structural and functional abnormalities.…”

Section: Multifaceted Treatment Approachmentioning

confidence: 99%

Wilson disease: At the crossroads between genetics and epigenetics—A review of the evidence

Kieffer

Medici

2017

Liver Research

View full text Add to dashboard Cite

Environmental factors, including diet, exercise, stress, and toxins, profoundly impact disease phenotypes. This review examines how Wilson disease (WD), an autosomal recessive genetic disorder, is influenced by genetic and environmental inputs. WD is caused by mutations in the copper-transporter gene ATP7B, leading to the accumulation of copper in the liver and brain, resulting in hepatic, neurological, and psychiatric symptoms. These symptoms range in severity and can first appear anytime between early childhood and old age. Over 300 disease-causing mutations in ATP7B have been identified, but attempts to link genotype to the phenotypic presentation have yielded little insight, prompting investigators to identify alternative mechanisms, such as epigenetics, to explain the highly varied clinical presentation. Further, WD is accompanied by structural and functional abnormalities in mitochondria, potentially altering the production of metabolites that are required for epigenetic regulation of gene expression. Notably, environmental exposure affects the regulation of gene expression and mitochondrial function. We present the “multi-hit” hypothesis of WD progression, which posits that the initial hit is an environmental factor that affects fetal gene expression and epigenetic mechanisms and subsequent “hits” are environmental exposures that occur in the offspring after birth. These environmental hits and subsequent changes in epigenetic regulation may impact copper accumulation and ultimately WD phenotype. Lifestyle changes, including diet, increased physical activity, stress reduction, and toxin avoidance, might influence the presentation and course of WD, and therefore may serve as potential adjunctive or replacement therapies.

show abstract

Section: Multifaceted Treatment Approachmentioning

confidence: 99%

Wilson disease: At the crossroads between genetics and epigenetics—A review of the evidence

Kieffer

Medici

2017

Liver Research

View full text Add to dashboard Cite

show abstract

“…[21][22][23][24][25][26][27][28][29][30][31] Added to penicillamine, zinc, and triene is ammonium tetrathiomolybdate, 31 a new agent that could be useful in patients with neuropsychiatric presentation because it has not caused the neurologic deterioration occasioned by penicillamine. [21][22][23][24][25][26][27][28][29][30][31] Added to penicillamine, zinc, and triene is ammonium tetrathiomolybdate, 31 a new agent that could be useful in patients with neuropsychiatric presentation because it has not caused the neurologic deterioration occasioned by penicillamine.…”

Section: Current Researchmentioning

confidence: 99%

“…[5][6][7][8][9] Long-term follow-up studies are now available, including a series of 20 patients over 14 years with penicillamine therapy in 90% and zinc in 10%. 26 Another study examined results of penicillamine therapy for 15-27 years in 24 patients of whom 17 (71%) had cirrhosis (11 of these with cirrhosis complications) and 13 (54%) had neuropsychiatric symptoms. All had good response, but those on zinc or who switched to zinc because of penicillamine side effects had continued mild elevation of serum transaminases.…”

Section: End Of Life: Mechanisms and Comorbiditiesmentioning

confidence: 99%

“…Zinc blocks intestinal absorption and induces metallothioneins that enhance cytoplasmic capture of nontransported copper. 7,26 Therapy must be individualized because of disease variability and diverse factors influencing therapy, including autoimmune reactions to penicillamine, depression leading to noncompliance, and side effects from unintended copper deficiency. 31 Studies are available documenting efficacy of each of these agents alone and an increasing number are examining combination therapies.…”

Section: Standard Of Carementioning

confidence: 99%

See 1 more Smart Citation

Wilson Disease

Wilson

2015

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

View full text Add to dashboard Cite

“…Too much or too less of essential trace elements in the body could induce metabolic disorder, and toxic elements could also cause the damage of tissues and organs. Excess copper (Cu) in vivo could induce Wilson disease (hepatolenticular degeneration)[45] and renal injury could also occur due to the association of nickel (Ni), chrome (Cr) and cobalt (Co). [6]…”

Section: Introductionmentioning

confidence: 99%

Study on the in vivo toxic mechanism of xixin based on trace elements determination by inductively coupled plasma-mass spectrometry

et al. 2014

View full text Add to dashboard Cite

Background:Xixin has been widely used as a traditional Chinese medicine for headache, toothache and inflammatory diseases. Clinical investigation indicated that adverse drug reactions occurred with an overdose of xixin, but the toxic mechanism of xixin in vivo based on trace elements has not been researched yet.Objective:To explore the in vivo toxic mechanism of xixin induced by trace elements.Materials and Methods:The contents of trace elements in the serum and liver of mice were determined by inductively coupled plasma-mass spectrometry (ICP-MS) after obtaining xixin extracts. Principal component analysis (PCA) and cluster analysis (CA) were performed between the trace elements’ content and dosage using the software GeneSpring 12.1 to analyze the main toxic elements in vivo.Results:Trace elements’ contents were obviously raised after xixin extracts were taken as a dosage of 150 mg/mL and 50 mg/mL, respectively. Na, Ca, Cu and Cd in serum and Ca and Zn in liver were the main trace elements inducing the toxic reaction of xixin.Conclusion:Xixin possesses the potential function of indirectly upregulating trace elements in vivo. This study, for the first time, elucidated the in vivo toxic mechanism of xixin based on trace elements. This method could also be utilized in the research of corresponding aspects.

show abstract

Response to different therapeutic approaches in Wilson disease. A long-term follow up study

Cited by 16 publications

References 19 publications

Wilson disease: At the crossroads between genetics and epigenetics—A review of the evidence

Wilson disease: At the crossroads between genetics and epigenetics—A review of the evidence

Wilson Disease

Study on the in vivo toxic mechanism of xixin based on trace elements determination by inductively coupled plasma-mass spectrometry

Contact Info

Product

Resources

About