Introducing Single-Nucleotide Polymorphism Markers in the Diagnosis of Wilson Disease

Schmidt, H.

doi:10.1373/clinchem.2007.093633

Cited by 4 publications

(4 citation statements)

References 8 publications

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“…[15][16][17] Until now more than 400 mutations in the gene have been documented from various countries. [18] Genetic analyses from India have reported mainly from three centers: Chandigarh, Kolkata and Vellore. [19][20][21] The commonest mutations in these studies are variable and include: (a) Chandigarh group: T3305C, C2975A, 2977insA and 3031insC-6% each; (B) Kolkata group: C813A-19% and (c) Vellore group: G3182A-16% and C813A-12%.…”

Section: Geneticsmentioning

confidence: 99%

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Wilson′s disease: An Indian perspective

2009

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Wilson's disease (WD) is an autosomal recessive disease involving a defect of copper transport by the hepatic lysosomes. It leads to excess copper deposition in the liver, the brain, the kidneys and the skeletal system, affecting most commonly children or young adults and running an invariably fatal course if not adequately treated by de-coppering therapy. The last century has witnessed several changes, notable among these are: Increased awareness, improved diagnostic facilities leading to earlier recognition even in the pre-symptomatic phase, clear distinction from its mimics, aggressive therapeutic approaches owing to availability of effective treatment and an overall reduction in the morbidity and mortality. It is widely acknowledged that the disease is not as rare as once believed. Sir SAK Wilson published his landmark article in 1912, but it was only in 1968 that the first patient of WD was reported from our country. Publications from India on WD have focused on phenotypic characterization, documentations of lesser recognized aspects of the disease e.g. seizures, behavior abnormality, speech and cognitive impairment, sub-clinical affection of visual pathway, heart and autonomic function and pre-symptomatic detection. Attempts have been made to understand the clinical heterogeneity of the disease through identification of biochemical and immunological markers, magnetic resonance imaging, neuropathological study and genetic analysis for novel and/or known mutations. Assessment of impairment and severity and effect of various therapeutic interventions namely zinc sulphate on the long-term outcome and quality of life have also been studied. Nevertheless, clinicians often face difficulties in long-term care of these patients. Diagnostic errors leading to delay in diagnosis and initiation of treatment are common, even in patients with positive family history. There is no consensus regarding therapeutic protocols since the use of penicillamine, once a 'gold standard' for treatment, has been debated by experts. Mortality and morbidity of this potentially treatable disease and nonavailability of medications to the poor patients remain a major area of concern.

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Section: Geneticsmentioning

confidence: 99%

“…There is no single predominant mutation noted in the Indian population unlike the studies in other countries: PH1069Q in 60% of central European population and pR778L in 45% of Chinese population, thus suggesting genetic heterogeneity in India. [18] Pathogenesis and Pathology…”

Section: Geneticsmentioning

confidence: 99%

Wilson′s disease: An Indian perspective

2009

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“…Nevertheless, in the near future it is likely that genotyping for specific SNPs will be useful in clinical diagnosis and prognostic assessment of patients. SNP markers are already being used in the diagnosis of a few diseases such as Wilson disease [165]. An understanding of how the gene polymorphisms affect proteins associated with disease will likely lead to new drug targets and therapeutic approaches.…”

Section: Discussionmentioning

confidence: 99%

Genetics of Proteasome Diseases

Gomes

2013

Scientifica

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The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (−8C/G) is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.

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“…Wilson’s disease (WD; OMIM: 277900) is a genetic disorder that results in impaired copper metabolism. Historically, the prevalence of WD was estimated as about 1 in 30 000 live births [1], but a recent genetic study suggested that it is underestimated and is really 1 in 7000 live births [2]. The most common presentations of WD are liver disease and neurologic symptoms [3, 4].…”

Section: Introductionmentioning

confidence: 99%

Cardiac assessment in Wilson’s disease patients based on electrocardiography and echocardiography examination

Buksińska−Lisik

Litwin

Pasierski

et al. 2019

aoms

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A b s t r a c tIntroduction: Wilson's disease (WD) is a rare genetic disorder that leads to impairments in copper metabolism. Patients principally exhibit liver and neuropsychiatric symptoms, but because copper also accumulates in all body organs, other (typically milder) clinical symptoms can occur. To date, cardiac involvement has not been thoroughly investigated in patients with WD. This study aimed to evaluate heart structure and function in patients with WD with commonly available diagnostic methods. Material and methods: We compared 125 WD patients with an age-and sex-matched control group. Patients with WD were grouped according to their dominant symptoms -neurologic or hepatic. All subjects underwent clinical, electrocardiographic (ECG), and echocardiographic examinations. Results: All subjects had sinus rhythm on electrocardiography. The only ECG parameter that differed between patients with WD and the control group was the QRS prolongation (92.0 vs. 86.4 ms; p < 0.05). On echocardiography patients with WD exhibited more hypertrophy in the left ventricle than controls (posterior wall in diastole: 1.0 vs. 0.93; p < 0.01) and the left ventricle hypertrophy was more pronounced in the neurologic than in the hepatic subgroup (1.05 vs. 0.96 cm; p < 0.01). Left ventricular systolic function was similar in the WD and the control group (ejection fraction: 67.5% vs. 67.7%). On tissue Doppler echocardiography patients with WD demonstrated slowing of myocardial relaxation, which was more evident in the neurologic group. Conclusions: Heart involvement in WD was manifested mainly by mild left ventricular hypertrophy and subclinical changes in diastolic function, particularly in the patients with the neurologic form of disease.

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Introducing Single-Nucleotide Polymorphism Markers in the Diagnosis of Wilson Disease

Cited by 4 publications

References 8 publications

Wilson′s disease: An Indian perspective

Wilson′s disease: An Indian perspective

Genetics of Proteasome Diseases

Cardiac assessment in Wilson’s disease patients based on electrocardiography and echocardiography examination

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