Navigation Links
Rice lab finds molecular clues to Wilson disease
Date:8/19/2008

HOUSTON -- Aug. 19, 2008 -- Using a combination of computer simulations and cutting-edge lab experiments, physical biochemists at Rice University have discovered how a small genetic mutation -- which is known to cause Wilson disease -- subtly changes the structure of a large, complex protein that the body uses to keep copper from building up to toxic levels.

"The protein we study is like a big puzzle," said lead author Agustina Rodriguez-Granillo, the Rice doctoral student in biochemistry and cell biology who carried out the mathematical simulations and laboratory research. "The mutation that causes most cases of Wilson disease is well-known, but our study looks at the overall puzzle to see how such a small mutation can alter the shape and function of such a large and complex protein."

The protein in question is called ATP7B, which is a multidomain protein that sits in an internal membrane and regulates the movement of copper atoms inside human cells. Though large quantities of copper can be toxic, our bodies need a small amount for key enzymes involved in, for example, respiration and brain functions. ATP7B acts something like a warehouse manager, locking up bulk quantities of copper and handing it out for use in these proteins.

Wilson disease is a genetic disorder that alters the ATP7B protein's ability to work, causing copper to build up to toxic levels in the liver, brain, eyes and other organs. Over time the disease can cause life-threatening organ damage. Wilson disease affects as many as 150,000 people worldwide.

The new study is available online from the Journal of Molecular Biology. It focused on the genetic flaw that causes most cases of Wilson disease. That flaw, known as H1069Q, is caused when just one out of the more than 1,400 amino acids in ATP7B is changed. That amino acid is a histidine located at position 1069. In the disease-causing form of the protein, this histidine is replaced with a glutamic ac
'/>"/>

Contact: Jade Boyd
jadeboyd@rice.edu
713-348-6778
Rice University
Source:Eurekalert  

Page: 1 2

Related biology news :

1. University of Oregon researcher finds that on waters surface, nitric acid is not so tough
2. Study finds environmental tests help predict hospital-acquired Legionnaires disease risk
3. Study finds blocking angiogenesis signaling from inside cell may lead to serious health problems
4. Study finds Viagra increases release of key reproductive hormone
5. Survey finds elevated rates of new asthma among WTC rescue and recovery workers
6. St. Jude finds factors that accelerate resistance to targeted therapy in lymphoblastic leukemia
7. Study finds a high rate of asthma in college athletes
8. Ecologist finds dire devastation of snake species following floods of 93, 95
9. Men shed light on the mystery of human longevity, study finds
10. JILA finds flaw in model describing DNA elasticity
11. Americans remain pessimistic about the environment, Stanford-AP survey finds
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Rice lab finds molecular clues to Wilson disease
(Date:7/29/2014)... Francisco is the first to show that while the ... aging, these negative effects may be reduced by maintaining ... "The study participants who exercised, slept well and ate ... didn,t maintain healthy lifestyles, even when they had similar ... assistant professor in the department of psychiatry at UCSF. ...
(Date:7/28/2014)... An international team of researchers led by the University ... rice. , The genetic information will enhance scientists, and ... as well as enable the development of new rice ... environmental stressors to help solve global hunger challenges. , ... Oryza glaberrima ) and evidence for independent domestication," was ...
(Date:7/28/2014)... School of Medicine have pinpointed a mechanism in part of ... the blood, linking it to both type 1 and type ... issue of Proceedings of the National Academies of Sciences ... located in a part of the hypothalamus known as ... motion that control glucose levels in the blood," said lead ...
Breaking Biology News(10 mins):Healthy lifestyle may buffer against stress-related cell aging, study says 2Generating a genome to feed the world: UA-led team sequences African rice 2Generating a genome to feed the world: UA-led team sequences African rice 3Generating a genome to feed the world: UA-led team sequences African rice 4Glucose 'control switch' in the brain key to both types of diabetes 2
... University Park, Pa. Health benefits from polyphenol antioxidants ... may come at a cost to some people. Penn ... the amount of iron the body absorbs, which can ... "Polyphenols have been known to have many beneficial effects ...
... biological invader that reaches its shores via cargo shipped ... Asian Longhorned Beetles, Kudzu, Triffid weed and others have ... harming human health and threatening biodiversity. The answer: ... of controlling invaders against the economic necessity of free ...
... brings debilitating side effects such as nausea, liver toxicity and ... way to deliver this life-saving therapy to cancer patients ― ... been invented by Dr. Dan Peer of Tel Aviv University,s ... Nano Science and Nano Technology together with Prof. Rimona Margalit ...
Cached Biology News:Polyphenol antioxidants inhibit iron absorption 2New analysis weighs lost trade, costs to control invasive species against economic damages 2New analysis weighs lost trade, costs to control invasive species against economic damages 3A cluster bomb for cancer care 2
(Date:7/29/2014)... LOUIS , July 29, 2014  Sigma-Aldrich Corporation ... water and energy use, increased its investment in Green ... service around the world last year, the Company announced ... What if Science Changed the World? ... earned several honors for being a responsible corporate citizen, ...
(Date:7/29/2014)... -- United Therapeutics Corporation (NASDAQ: UTHR ... the second quarter ended June 30, 2014. ... medicines are reaching increasing numbers of patients ... Martine Rothblatt, Ph.D., United Therapeutics, Chairman and ... quarter of our extended-release tablet called Orenitram ...
(Date:7/29/2014)... July 29, 2014 Eppendorf Centrifuge ... product selection. Eppendorf 5427 R is geared towards high-end ... – it is targeted towards work requiring high sample ... R as it compliments their extensive 16, 48, and ... of microcentrifuge tubes, PCR tubes, PCR strip tubes, and ...
(Date:7/29/2014)... July 29, 2014 White papers ... and cloud based eClinical technologies, have been published by ... These follow a long line of white papers by ... including Life Science Leader, Pharmaceutical Online, and OpenHealthNews. , ... a paper by CTO Marc Desgrousilliers, 'The Five ...
Breaking Biology Technology:Sigma-Aldrich Achieves Record Success in Environmental, Community Initiatives 2Sigma-Aldrich Achieves Record Success in Environmental, Community Initiatives 3United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 2United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 3United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 4United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 5United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 6United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 7United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 8United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 9United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 10United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 11United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 12United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 13International Pipette Distributor, Pipette.com Announces the Addition of the Eppendorf Centrifuge 5427 R to Their Product Portfolio 2Clinovo White Papers Published in Summer 2014 Editions of Leading Medical Device & Pharmaceutical Publications 2Clinovo White Papers Published in Summer 2014 Editions of Leading Medical Device & Pharmaceutical Publications 3
... Additional Phase 3 Trials on Track for Initiation Later ... for Today at 8:30 a.m. Eastern Time -, ... ARNA ) announced today that an independent Echocardiographic,Data Safety ... to stop,the ongoing pivotal Phase 3 trial, BLOOM (Behavioral ...
... Unit for $185 Million; Deal ... Expected to Close in the Fourth Quarter 2007, ... NABI ) announced today that it has entered into,a ... the Nabi,Biologics strategic business unit (SBU) to Biotest Pharmaceuticals,Corporation ...
... Ltd. (NASDAQ: XTLB ; LSE: XTL; TASE: XTL) ... 8:30 a.m. EDT to discuss the,Phase IIb clinical trial ... was initiated yesterday. Hosting the call will be ... will be two distinguished members of the diabetic,neuropathic pain ...
Cached Biology Technology:Arena Pharmaceuticals Continues Phase 3 BLOOM Obesity Trial Following Independent Echocardiogaphic Data Safety Monitoring Board Review 2Arena Pharmaceuticals Continues Phase 3 BLOOM Obesity Trial Following Independent Echocardiogaphic Data Safety Monitoring Board Review 3Arena Pharmaceuticals Continues Phase 3 BLOOM Obesity Trial Following Independent Echocardiogaphic Data Safety Monitoring Board Review 4Arena Pharmaceuticals Continues Phase 3 BLOOM Obesity Trial Following Independent Echocardiogaphic Data Safety Monitoring Board Review 5Arena Pharmaceuticals Continues Phase 3 BLOOM Obesity Trial Following Independent Echocardiogaphic Data Safety Monitoring Board Review 6Nabi Biopharmaceuticals Announces Sale of Nabi Biologics to Biotest AG 2Nabi Biopharmaceuticals Announces Sale of Nabi Biologics to Biotest AG 3Nabi Biopharmaceuticals Announces Sale of Nabi Biologics to Biotest AG 4Nabi Biopharmaceuticals Announces Sale of Nabi Biologics to Biotest AG 5Nabi Biopharmaceuticals Announces Sale of Nabi Biologics to Biotest AG 6Reminder: XTL to Hold a Conference Call Today at 8:30 am EDT to Discuss the Phase IIb Clinical Trial of Bicifadine for the Treatment of Diabetic Neuropathic Pain 2
US Pharmacopoeia Purified-Water/Water-for-Injection Quality Water...
... PinPoint™ Vector Sequencing Primer is designed for ... Vectors (Cat.# V2031, V2051, V2061). The primer ... at nucleotides 325343, approximately 4050 base pairs ... can be used to determine if an ...
Request Info...
...
Biology Products: