Navigation Links
Key genetic mutations could be new hope for adrenocortical tumor patients
Date:4/4/2014

April 3, 2014, Shenzhen, China - Chinese researchers from Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, BGI, and other institutions have discovered that the activating hotspot L205R mutation in PRKACA gene was closely associated with adrenocortical tumors (ACTs), and the relationship of recurrently mutated DOT1L and CLASP2 with ACTs' other subtypes. The latest study published online in Science opens a new insight into diagnosis and treatment of Adrenal Cushing's syndrome.

Adrenal Cushing's syndrome results from autonomous production of cortisol (ACTH-independent) from adrenocortical tumors (ACTs), which may lead to a series of metabolic disorders such as obesity, glucose intolerance and hypertension. However, the genetic architecture of Adrenal Cushing's syndrome remains largely uncharacterized, hampering the development of diagnostic and therapeutic approaches for Cushing's syndrome.

In this study, researchers performed whole-exome sequencing of 49 blood-tumor pairs and RNA sequencing of 44 tumors from cortisol-producing adrenocortical adenomas (ACAs), ACTH-independent macronodular adrenocortical hyperplasia (AIMAH), and adrenocortical oncocytoma (ADO). They found there was a hotspot L205R mutation in PRKACA gene, and two novel mutated genes that have never been reported: One is DOT1L, which may contribute the tumorigenesis of AIMAH; the other is HDAC9, which would be responsible for ADOs.

In the large-scale validation stage, researchers found that L205R mutation was only found in the ACTs, and located in the highly conserved functional domain-P+1 loop of PKA catalytic subunit-plays an important role in the combination of kinase and substrate. The further molecular and cell function validation proved that L205R mutation caused the increase of protein activity and enhanced the catalytic capability of the phosphorylation, and promoted the occurrence of tumor and the production of steroid by substrate phos
'/>"/>

Contact: Jia Liu
liujia@genomics.cn
BGI Shenzhen
Source:Eurekalert

Page: 1 2

Related biology news :

1. Examination of a cave-dwelling fish finds a possible genetic link to human disorders
2. Xiangling Wang, M.D., Ph.D. receives Pfizer/ACMG Foundation Clinical Genetics Fellowship
3. Genetic markers may predict when people with heart disease are likely to have a heart attack
4. Erasing a genetic mutation
5. Genetic mutations warn of skin cancer risk
6. Drilling into the trends in genetics and epigenetics of aging and longevity
7. Faster genetic testing method will likely transform care for patients with breast cancer
8. Genetics can explain why infections can trigger rheumatoid arthritis
9. Certain genetic variants may put bladder cancer patients at increased risk of recurrence
10. MRI reveals genetic activity
11. UT Southwestern ob/gyn researchers studying genetic factors in premature births
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/22/2015)... -- NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" or the "Company") ... promotional pricing and making the Wocket generally available for $229 ... Head of Marketing said, "We,ve extended the opportunity to take ... May. To get your wocket at this special price, submit ... on June 1, you,ll receive a unique code that gives ...
(Date:5/20/2015)... DUBLIN , May 20, 2015 ... Markets ( http://www.researchandmarkets.com/research/h8t4x6/5year ) has announced the ... of the Global Iris Recognition Market" ... http://photos.prnewswire.com/prnh/20130307/600769) , ,This research service analyses ... across the government and commercial sectors, ...
(Date:5/19/2015)... , May 19, 2015 ... has announced the addition of the  "Genetic ... offering.  ,     (Logo: http://photos.prnewswire.com/prnh/20130307/600769) , ,A recent ... an in-depth analysis of the current and ... of gene-based tests, their working principles and ...
Breaking Biology News(10 mins):NXT-ID, Inc Announces Retail Price For Wocket Smart Wallet And Extends Discounted Promotional Price Till End Of May 2NXT-ID, Inc Announces Retail Price For Wocket Smart Wallet And Extends Discounted Promotional Price Till End Of May 3Global Iris Recognition Market Report 2015 - 5-Year Opportunity Analysis 2Global Genetic Testing Market Outlook 2018 2
... international study reveals that the issue of climate change is ... around the world. The surveys showed that when asked ... to point to the economy over the environment. Additionally, when ... of a national problem than a personal concern. ...
... may be a major factor behind the increased risk ... vitro fertilization (IVF). Two papers published in the ... that extremely high estrogen levels at the time of ... born small for their gestational age and the risk ...
... February 25, 2013 -- In a study published today in ... scenarios and climate models to show how varying levels of ... severe coral bleaching events. Large-scale ,mass, bleaching events ... High temperatures make light toxic to the algae that reside ...
Cached Biology News:Global surveys show environmental concerns rank low among public concerns 2Global surveys show environmental concerns rank low among public concerns 3Extremely high estrogen levels may underlie complications of single-birth IVF pregnancies 2Extremely high estrogen levels may underlie complications of single-birth IVF pregnancies 3Scientists create new maps depicting potential worldwide coral bleaching by 2056 2
(Date:5/27/2015)... May 27, 2015 The ALS ... via its wholly owned subsidiary, Anelixis Therapeutics , ... for ALS that targets the innate immune system. The ... Development Institute received from the 2014 social media phenomenon ... sum of $4 million raised directly by the Institute ...
(Date:5/27/2015)... 27, 2015  CytomX, a biotechnology company developing ... announced the appointments of Bob Goeltz ... as senior vice president and general counsel. ... officer of Onyx Pharmaceuticals, an Amgen subsidiary. Ms. ... legal counsel to several leading biotech companies, including ...
(Date:5/27/2015)... May 27, 2015  Two years after its founding ... and citizen scientists, Oakland -based Counter ... promoting its mission to democratize science through a full-fledged ... Photo - ... Based out of the new ...
(Date:5/27/2015)... , May 27, 2015  US-Australian drug discovery and ... announced today that it will present at the Brain Tumor ... on May 29, 2015. The venue is the ... Manhattan . The Brain Tumor Biotech ... the pharmaceutical industry and the investment community to promote innovative ...
Breaking Biology Technology:Ice Bucket Challenge Advances Antibody Toward Clinical Trial for ALS 2Ice Bucket Challenge Advances Antibody Toward Clinical Trial for ALS 3CytomX Expands Executive Leadership Team 2CytomX Expands Executive Leadership Team 3East Bay's Counter Culture Labs Seeks to Open Doors of Science to Public 2East Bay's Counter Culture Labs Seeks to Open Doors of Science to Public 3Novogen to Present at Brain Tumor Biotech Summit 2015 2Novogen to Present at Brain Tumor Biotech Summit 2015 3Novogen to Present at Brain Tumor Biotech Summit 2015 4Novogen to Present at Brain Tumor Biotech Summit 2015 5
... The discovery of a new class of dual-acting antimalarial ... journal Science online, at the Science ... both liver and blood infections, attacking the Plasmodium parasite at ... findings describe how scientists developed a novel assay to determine ...
... 17, 2011 DR Systems will be exhibiting ... with the full complement of modular Unity CVIS, PACS, and ... both desktop and server virtualization-capable, and can be accessed from ... mobile/non-mobile computing devices. The Unity v|Series RIS is ...
... 2011 InspireMD, Inc. (OTC BB: NSPR) ... on the development and commercialization of its proprietary stent ... a current member of the Company,s board of directors ... has been elected the Chairman of InspireMD,s Board of ...
Cached Biology Technology:Dual-acting class of antimalarial compounds discovered with potential to prevent and treat malaria 2Dual-acting class of antimalarial compounds discovered with potential to prevent and treat malaria 3At RSNA, DR Systems Will Exhibit RIS, Reporting, Peer Review Systems 2At RSNA, DR Systems Will Exhibit RIS, Reporting, Peer Review Systems 3InspireMD Elects Sol J. Barer, Ph.D. Chairman of the Board of Directors 2InspireMD Elects Sol J. Barer, Ph.D. Chairman of the Board of Directors 3
Superior homology search software - in all the flavours of blast, with increased sensitivity and speed...
Protein 3D structure prediction, via threading. Easy to use....
... (3 per pack), 1. One ... processing.Automated staining of Coomassie Blue or ... acid analysis.Prepares blots for high sensitivity ... of protocol, solution, volume, and processing ...
DITHIOTHREITOL, 150UMOL, 1 EA. Dithiothreitol (DTT), 0.1 M Solution:, *0.1 M solution of DTT in high purity dH2O., *0.2 m filtered., *Storage: -20C. Category: SEQUENASE....
Biology Products: