A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver. (1/375)

Wilson's disease is an inherited disorder of copper metabolism characterized by hepatic cirrhosis and neuronal degeneration. In this current study, a polyclonal antiserum specific for the Wilson's disease ATPase was used to examine the hepatic expression of this protein. Immunoblot analysis of lysates from human and rat liver detected a single 165-kDa protein, which by immunofluorescence was present only in hepatocytes and localized predominantly to the trans-Golgi network and exclusively in this compartment under low hepatic copper concentrations. Although hepatic copper concentration had no effect on the steady-state levels of the Wilson's disease protein, copper administration in vivo resulted in redistribution of this protein to a cytoplasmic vesicular compartment localized toward the hepatocyte canalicular membrane. The relative abundance of the Wilson's disease protein in the liver was found to be greatest in the fetus before the onset of biliary copper excretion. Taken together, these studies reveal a novel posttranslational mechanism of copper homeostasis in vivo consistent with the proposed function of the Wilson's disease protein in holoceruloplasmin biosynthesis and biliary copper excretion and of relevance to the broad clinical heterogeneity observed in this disease.  (+info)

Caeruloplasmin isoforms in Wilson's disease in neonates. (2/375)

AIM: To investigate the neonatal diagnosis of Wilson's disease from caeruloplasmin isoforms in cord blood. METHODS: Serum caeruloplasmin isoforms were measured in 5-10 ml cord blood from 10 fresh umbilical cords using sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and western blotting and analysed by densitometry. Total caeruloplasmin concentrations were determined by nephelometry and caeruloplasmin oxidase by p-nitrophenyldiamine. RESULTS: Although total caeruloplasmin concentrations are reduced in neonates, the plasma isoform was significantly reduced or absent in patients with Wilson's disease. Sera from healthy neonates and from those with Wilson's disease had reduced biliary isoforms. CONCLUSION: Identification of caeruloplasmin isoforms may be a marker for Wilson's disease in neonates.  (+info)

Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease. (3/375)

We have analyzed the functional effect of site-directed mutations and deletions in the copper-binding domain of ATP7B (the copper transporting P-type ATPase defective in Wilson disease) using a yeast complementation assay. We have shown that the sixth copper-binding motif alone is sufficient, but not essential, for normal ATP7B function. The N-terminal two or three copper-binding motifs alone are not sufficient for ATP7B function. The first two or three N-terminal motifs of the copper-binding domain are not equivalent to, and cannot replace, the C-terminal motifs when placed in the same sequence position with respect to the transmembrane channel. From our data, we propose that the copper-binding motifs closest to the channel are required for the copper-transport function of ATP7B. We propose that cooperative copper binding to the copper-binding domain of ATP7B is not critical for copper transport function, but that cooperative copper binding involving the N-terminal two or three copper-binding motifs may be involved in initiating copper-dependent intracellular trafficking. Our data also suggest a functional difference between the copper-binding domains of ATP7A and ATP7B.  (+info)

RESPONSIVE-TO-ANTAGONIST1, a Menkes/Wilson disease-related copper transporter, is required for ethylene signaling in Arabidopsis. (4/375)

Ethylene is an important regulator of plant growth. We identified an Arabidopsis mutant, responsive-to-antagonist1 (ran1), that shows ethylene phenotypes in response to treatment with trans-cyclooctene, a potent receptor antagonist. Genetic epistasis studies revealed an early requirement for RAN1 in the ethylene pathway. RAN1 was cloned and found to encode a protein with similarity to copper-transporting P-type ATPases, including the human Menkes/Wilson proteins and yeast Ccc2p. Expression of RAN1 complemented the defects of a ccc2delta mutant, demonstrating its function as a copper transporter. Transgenic CaMV 35S::RAN1 plants showed constitutive expression of ethylene responses, due to cosuppression of RAN1. These results provide an in planta demonstration that ethylene signaling requires copper and reveal that RAN1 acts by delivering copper to create functional hormone receptors.  (+info)

MR imaging of hepatic injury in the LEC rat under a high magnetic field (7.05 T). (5/375)

Visualization of copper-induced hepatitis (CuH) in LEC rats was performed by using an MRI apparatus equipped with a magnet producing a high magnetic field of 7.05 T. When three groups of LEC rats (6-16 [pre-hepatitis], 15-26 [acute hepatitis] and 40-77 [chronic hepatitis] weeks old) were examined by MRI under T2-weighted imaging conditions which are suitable for the diagnosis of human hepatitis, hypointense MR images of the livers were, as a whole, obtained in all groups, suggesting that these conditions were not adequate for imaging of CuH of LEC rats. The shortening of the T1 and T2 relaxation times of livers due to an excess amount of paramagnetic irons under the high magnetic field was responsible for the lowering of MR signal intensities of the livers, especially those of 15 to 26-week old rats showing acute hepatitis. However, theoretical calculation of the MR signal intensities using the T1 and T2 relaxation times of the livers indicated that their imaging might be possible under proton density-weighted conditions even with a high magnetic field. Experimental results showed that hepatic injury was visualized as hyperintense regions in the MR image of the liver in the acute-phase rat.  (+info)

A delicate balance: homeostatic control of copper uptake and distribution. (6/375)

The cellular uptake and intracellular distribution of the essential but highly toxic nutrient, copper, is a precisely orchestrated process. Copper homeostasis is coordinated by several proteins to ensure that it is delivered to specific subcellular compartments and copper-requiring proteins without releasing free copper ions that will cause damage to cellular components. Genetic studies in prokaryotic organisms and yeast have identified membrane-associated proteins that mediate the uptake or export of copper from cells. Within cells, small cytosolic proteins, called copper chaperones, have been identified that bind copper ions and deliver them to specific compartments and copper-requiring proteins. The identification of mammalian homologues of these proteins reveal a remarkable structural and functional conservation of copper metabolism between bacteria, yeast and humans. Furthermore, studies on the function and localization of the products of the Menkes and Wilson's disease genes, which are defective in patients afflicted with these diseases, have provided valuable insight into the mechanisms of copper balance and their role in maintaining appropriate copper distribution in mammals.  (+info)

Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. (7/375)

The Atp7b protein is a copper-transporting ATPase expressed predominantly in the liver and to a lesser extent in most other tissues. Mutations in the ATP7B gene lead to Wilson disease, a copper toxicity disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neuro-logical abnormalities. Using homologous recombination to disrupt the normal translation of ATP7B, we have generated a strain of mice that are homozygous mutants (null) for the Wilson disease gene. The ATP7B null mice display a gradual accumulation of hepatic copper that increases to a level 60-fold greater than normal by 5 months of age. An increase in copper concentration was also observed in the kidney, brain, placenta and lactating mammary glands of homo-zygous mutants, although milk from the mutant glands was copper deficient. Morphological abnormalities resembling cirrhosis developed in the majority of the livers from homozygous mutants older than 7 months of age. Progeny of the homozygous mutant females demonstrated neurological abnormalities and growth retardation characteristic of copper deficiency. Copper concentration in the livers of the newborn homozygous null mutants was decreased dramatically. In summary, inactivation of the murine ATP7B gene produces a form of cirrhotic liver disease that resembles Wilson disease in humans and the 'toxic milk' phenotype in the mouse.  (+info)

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (8/375)

In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. We found 50 different mutations of which 19 are novel, including three nonsense, one frameshift, and 15 missense mutations. The mutations detected were rare and mostly found in the compound heterozygous state together with other mutations and only rarely in homozygosity. Most of these mutations lie in the transmembrane and ATP binding loop regions. These data expand our knowledge of both the structure-function relationships of the WD protein and the molecular pathology of WD, thus improving our capability of prevention and genetic counselling.  (+info)

Hepatolenticular degeneration, also known as Wilson's disease, is a rare genetic disorder of copper metabolism. It is characterized by the accumulation of copper in various organs, particularly the liver and brain. This leads to progressive damage and impairment of their functions.

The medical definition of Hepatolenticular degeneration (Wilson's disease) is:

A genetic disorder caused by a mutation in the ATP7B gene, resulting in impaired biliary excretion of copper and its accumulation within hepatocytes. This causes liver damage, which can manifest as acute hepatitis, cirrhosis, or fulminant hepatic failure. Additionally, excess copper is released into the bloodstream and deposited in various tissues, including the basal ganglia of the brain, leading to neurological symptoms such as tremors, rigidity, dysarthria, and behavioral changes. Other features include Kayser-Fleischer rings (copper deposition in the cornea), splenomegaly, and hemolytic anemia. Early diagnosis and treatment with copper-chelating agents can significantly improve outcomes and prevent complications.

... isolated from two cases of hepatolenticular degeneration". Journal of the American Medical Women's Association. 11 (4): 120-9. ...
"Amino-aciduria and Copper Metabolism in Hepatolenticular Degeneration". J Clin Pathol. 5 (1): 16-24. doi:10.1136/jcp.5.1.16. ...
Scheinberg IH, Gitlin D (Oct 1952). "Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's ...
Denny-Brown D, Porter H (December 1951). "The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's ...
His research of hepatolenticular degeneration led the disease to be named after him as Wilson's disease. He was the father of ... He described hepatolenticular degeneration in his Gold Medal winning M.D. dissertation of 1912 titled "Progressive lenticular ... Kinnier Wilson SA (1912). "Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the ... degeneration" from the University of Edinburgh Medical School. He was honored for his research of the disease, and afterwards ...
He is credited with providing an early diagnosis of "pseudosclerosis", a disease known today as hepatolenticular degeneration. ... He also demonstrated a relationship between tabes dorsalis (nerve degeneration in the spinal cord) and paralysis in the ... described Westphal-Leyden ataxia). Über eine dem Bilde der cerebrospinalen grauen Degeneration ähnliche Erkrankung des ...
Samuel Alexander Kinnier Wilson (1878-1937), neurologist who described hepatolenticular degeneration, a copper metabolism ...
... hepatolenticular degeneration) Xanthelasma palpebrarum (xanthelasma) Xanthoma diabeticorum Xanthoma planum (plane xanthoma) ... follicular degeneration syndrome, pseudopelade of the central scalp) Chevron nail (herringbone nail) Chromhidrosis (colored ...
Frerichs gave the first clinical description of progressive familial hepatolenticular degeneration (now known as Wilson's ...
... of the brains of people with Wilson disease and acquired hepatolenticular degeneration. Opalski cells was described by Adam ...
... hepatolenticular degeneration MeSH C10.228.140.079.545 - huntington disease MeSH C10.228.140.079.590 - meige syndrome MeSH ... hepatolenticular degeneration MeSH C10.574.500.494 - hereditary central nervous system demyelinating diseases MeSH C10.574. ... hepatolenticular degeneration MeSH C10.228.662.550 - multiple system atrophy MeSH C10.228.662.550.600 - olivopontocerebellar ... hepatolenticular degeneration MeSH C10.228.140.163.100.365 - homocystinuria MeSH C10.228.140.163.100.370 - hyperargininemia ...
GeneReviews/NIH/NCBI/UW entry on Wilson Disease or Hepatolenticular Degeneration Wilson+disease+protein at the U.S. National ...
... hepatolenticular degeneration MeSH C18.452.100.100.365 - homocystinuria MeSH C18.452.100.100.370 - hyperargininemia MeSH ... hepatolenticular degeneration MeSH C18.452.648.151.365 - homocystinuria MeSH C18.452.648.151.370 - hyperargininemia MeSH ... hepatolenticular degeneration MeSH C18.452.648.618.482 - hypophosphatasia MeSH C18.452.648.618.544 - hypophosphatemia, familial ...
... hepatolenticular degeneration MeSH C16.320.400.393 - hereditary central nervous system demyelinating diseases MeSH C16.320. ... hepatolenticular degeneration MeSH C16.320.565.150.365 - homocystinuria MeSH C16.320.565.150.370 - hyperargininemia MeSH ... hepatolenticular degeneration MeSH C16.320.565.618.482 - hypophosphatasia MeSH C16.320.565.618.544 - hypophosphatemia, familial ... spinocerebellar degenerations MeSH C16.320.400.780.200 - Friedreich's ataxia MeSH C16.320.400.780.500 - myoclonic cerebellar ...
... neurologist who described hepatolenticular degeneration, a copper metabolism disorder affecting the liver and central nervous ...
... seen in argyria and cases of hepatolenticular degeneration (Wilson's disease), also having been reported in hemoglobin M ...
Dr.Purushothaman [LivingInWellbeig], (Visionary & Director, Centre for Human Perfection), M.B.B.S; D.T.M&H; MS(Surgery); MA(Psycho-IGNOU); Ph.D. (Psycho) is currently working as a General Surgeon, Spiritual Scientist, Positive Psychologist, Life & Happiness Coach, Positive Health & Wellbeing Trainer, Mentor, Motivator, Mind Trainer, EFT Coach, Spiritual & Psychotech Healer. A Writer, Publisher &Consultant to various National & International Organizations.. My BooksAmazon BooksGoogle Books Kindle Books Kobo BooksPothi BooksPayhip BooksMalayalam BooksFree E-Books. Submit ArticleBook AppointmentChange Your Habits ...
Hepatolenticular degeneration syndrome. *WD. *Wilsons disease. Additional Information & Resources. Genetic Testing Information ...
Hepatolenticular Degeneration / complications * Hepatolenticular Degeneration / psychology* * Humans * Intelligence Tests * ...
... isolated from two cases of hepatolenticular degeneration". Journal of the American Medical Womens Association. 11 (4): 120-9. ...
Hepatolenticular Degeneration see Wilson Disease * High Blood Glucose see Hyperglycemia * High Blood Sugar see Hyperglycemia ...
Hepatolenticular Degeneration / complications * Hepatolenticular Degeneration / diagnosis * Humans * Hyperparathyroidism / ...
... hepatolenticular degeneration), hypoxic brain injury, traumatic brain injury, Huntington disease, Leigh disease, lipid storage ...
Its also known as hepatolenticular degeneration.. Why is the ceruloplasmin test ordered? ...
Cornea; Hepatolenticular degeneration; Corneal stroma; Descemet membrane; Microscopy, confocal. RESUMO. Objetivo:. Avaliar, ao ... A) and B) Loosely populated anterior stroma and dark "hollow" zones (arrows), presumed to be areas of degeneration. C) and D) ... A) and B) Loosely populated anterior stroma and dark "hollow" zones (arrows), presumed to be areas of degeneration. C) and D) ... A) and B) Loosely populated anterior stroma and dark "hollow" zones (arrows), presumed to be areas of degeneration. C) and D) ...
Effect of Microencapsulated Hepatocytes Transplantation on Copper Metabolism of Rat Model with Hepatolenticular Degeneration. ... To observe the effect of microencapsulated hepatocytes after intraperitoneal transplantation of hepatolenticular degeneration ( ... Read more about Effect of Microencapsulated Hepatocytes Transplantation on Copper Metabolism of Rat Model with Hepatolenticular ... Degeneration. Disclaimer. Manuscripts that are Published Ahead of Print have been peer reviewed and accepted for publication by ...
It has also been known as hepatolenticular degeneration.. Read more:. What causes Wilsons disease? , How do high copper ...
It is the drug of choice for Wilsons disease (hepato-lenticular degeneration due to an excess of copper). Deferoxamine has a ...
Cumings JN (1951). "The effects of B.A.L. in hepatolenticular degeneration". Brain. 74 (1): 10-22. doi:10.1093/brain/74.1.10. ... "The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration" (PDF). Brain. 71 (Dec): 410 ... "Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver" (PDF). Brain. 34 (1): ...
hepatolentikuläre Degeneration, stereotaktische Behandlung, Wilson-Pseudosklerose, hepatolenticular degeneration, Stereotactic ...
Wilsons Disease - copper storage disease (Hepatolenticular degeneration). Hemochromatosis - Iron storage disease. Received an ... macular degeneration (the leading cause of blindness in people over 55), Alzheimers disease, other neurodegenerative diseases ...
... technically hepatolenticular degeneration.. In 1948 Professor John Cumings, working at the same hospital, showed that patients ...
Hepatitis, Chemical and Drug Induced Liver Injury, Hemochromatosis, Hepatolenticular Degeneration, Medical Oncology, Liver ...
275.1 Disorders of copper metabolism Hepatolenticular degeneration Wilsons disease 275.2 Disorders of magnesium metabolism ... subacute degeneration of spinal cord with anemia (281.0-281.1) 266.9 Unspecified vitamin B deficiency 267 Ascorbic acid ...
... or hepatolenticular degeneration, is a disease marked by an increased output of copper in the urine, deposits of copper in the ...
Decreased levels are associated with hepatolenticular degeneration (Wilsons Disease). An elevated level of Cp is found in ...
Hepatolenticular Degeneration 13.2. × References/Inference Genes * References * Inference genes * 25002079 * IL6 * TNF ...
38 3. WILSONS DISEASE OR HEPATOLENTICULAR DEGENERATION =This disorder of abnormal copper metabolism is characteristics by the ...
Hepatolenticular Degeneration 30. [Congenital deafness] Publication: United States : La Rue, [1958] Subject(s): Ear -- ...
Calcium is one of the most abundant minerals in the human body. It has roles as the primary component of the transmembrane electrical gradient, in bone mineralization, and as an enzyme cofactor in the coagulation cascade.
Hepatolenticular Degeneration. *Hodgkin Disease. *Hyperhidrosis. *Intestinal Polyps. *Isaacs Syndrome. *Kartagener Syndrome. * ...
Hepatolenticular degeneration; Wilsons disease; WND. SNOMED CT: Wilsons disease (88518009); Hepatolenticular degeneration ... Hepatolenticular degeneration (88518009); Kinnier-Wilson disease (88518009); Neurohepatic degeneration (88518009); Progressive ... lenticular degeneration (88518009); WD - Wilsons disease (88518009). Modes of inheritance:. Autosomal recessive inheritance. ...
Degeneration, degenerative + * hepatolenticular. (Wilsons). * lenticular. (familial) (progressive) (Wilsons) (with cirrhosis ... hepatolenticular degeneration). (E83.01) Hepatolenticular degeneration (E83.01) Disease, diseased (see: Syndrome) + * ...
Zaitoon, H., Lubetzky, R., Amir, A. Z., Moran-Lev, H., Sagi, L., Yacobi-Bach, M., Borger, O., Chorna, E., Lebenthal, Y. & Brener, A., Aug 2023, In: Acta Diabetologica. 60, 8, p. 1099-1108 10 p.. Research output: Contribution to journal › Article › peer-review ...
  • Hepatolenticular degeneration (Wilson's disease, WD) is a kind of autosomal recessive genetic disease characterized by disorders of copper metabolism. (nih.gov)
  • Wilson's Disease, also known as Hepatolenticular Degeneration, is a rare, autosomal recessive mutation in the ATP7B gene. (optometrystudents.com)
  • A common misconception about Wilson's disease is in the name "hepatolenticular" which refers to the sites where copper accumulates. (optometrystudents.com)
  • Dobyns WB, Goldstein NP, Gordon H. Clinical spectrum of Wilson's disease (hepatolenticular degeneration) . (arizona.edu)
  • Wilson's disease (hepatolenticular degeneration) results from the interaction of an inherited defect and an abnormality in copper metabolism. (nih.gov)
  • The exception to this is in persons with the genetic defect causing Wilson's Disease (hepatolenticular degeneration). (natmedtalk.com)
  • THIS report presents a case of Wilson's disease (hepatolenticular degeneration) with two unusual occurrences. (symptoma.com)
  • Wilson's Disease or Hepatolenticular Degeneration is an autosomal recessive inherited disorder that causes increased accumulation of copper in organs. (medicforyou.in)
  • Kayser Fleischer Rings seen in Wilson's Disease or Hepatolenticular Degeneration are Golden to greenish-brown annular deposition of copper in periphery of the cornea (Descemet's membrane). (medicforyou.in)
  • Trientine is a chelating agent, used for the treatment of Wilson's disease (hepatolenticular degeneration) in patients intolerant to medication known as Penicillamine. (indiangenericmedicines.com)
  • Wilson's disease , hepatolenticular degeneration is an autosomal recessively inherited metabolic disease with a prevalence of approximately 1:25 000-30 000 and a frequency of heterozygot es in the population of approximately 1:90. (wikilectures.eu)
  • In contrast, light or baby blue nailsblue nailsBlue nails, or more formally azure lunula, are characterized by a blue discoloration of the lunulae, seen in argyria and cases of hepatolenticular degeneration (Wilson's disease), also having been reported in hemoglobin M disease and hereditary acrolabial telangiectases.https://en.wikipedia.org › wiki › Blue_nailsBlue nails - Wikipedia signifies that you're taken. (worldwidefaqs.com)
  • Wilson's disease also known as hepatolenticular degeneration is caused by mutations in the ATP7B gene, which is responsible for transporting copper from intracellular chaperone proteins into the secretory pathway, both for excretion into bile and for incorporation into apo-ceruloplasmin for the synthesis of functional ceruloplasmin.This defect results in progressive toxic accumulation of copper in the liver that begins in infancy when copper containing solids are introduced into the diet. (juneaunewsupdates.com)
  • INTRODUCTION - Wilson disease (hepatolenticular degeneration) is an autosomal recessive defect of cellular copper export. (medilib.ir)
  • Hepatolenticular degeneration(HLD) is an autosomal recessive liver disease associated with copper metabolism disorders. (lcgdbzz.org)
  • Examples of this include alcoholism giving rise to cirrhosis and cerebellar degeneration, and Niemann-Pick type C, an autosomal recessive lysosomal storage disease that can result in hepatomegaly and involuntary movements, including dystonia, chorea, myoclonus, and parkinsonism. (cambridge.org)
  • Wilson disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive disorder of copper transport affecting several organs, most notably the liver, brain, and cornea. (unboundmedicine.com)
  • 2. Liver and urine metabolomics reveal the protective effect of Gandou decoction in copper-laden Hepatolenticular degeneration model rats. (nih.gov)
  • 5. [Effect of gandou decoction on copper metabolism of skin fibroblast of hepatolenticular degeneration model]. (nih.gov)
  • 18. Gandou Decoction Decreases Copper Levels and Alleviates Hepatic Injury in Copper-Laden Hepatolenticular Degeneration Model Rats. (nih.gov)
  • Hepatolenticular Degeneration" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. (sdsu.edu)
  • This disease, also known as hepatolenticular degeneration, can cause severe neurological and liver problems if left untreated. (drchetankalal.com)
  • Case of hepatolenticular degeneration treated by BAL]. (nih.gov)
  • This graph shows the total number of publications written about "Hepatolenticular Degeneration" by people in this website by year, and whether "Hepatolenticular Degeneration" was a major or minor topic of these publications. (childrensmercy.org)