Navigation Links
Scientists identified T372R mutation as potential target for diagnosis and treatment of insulinoma
Date:12/11/2013

December 10, 2013, Shenzhen, China - Chinese researchers from Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, BGI and other institutes identified the recurrent T372R mutation in the transcription factor YY1 (Yin Yang 1) are related with insulinoma oncogenesis, implicating a potential marker for the diagnosis and treatment of functional pancreatic neuroendocrine tumors (PNETs). The latest study was published online in Nature Communications.

Pancreatic neuroendocrine tumors are classified into functional and nonfunctional tumors by hormone secretion and clinical symptoms. Functional PNETs are mainly represented by insulinoma, which secrete insulin independent of glucose and cause hypoglycemia. The major genetic alterations in insulinomas are still unknown.

In this study, researchers identified T372R mutation in YY1 by whole exome sequencing of 10 sporadic insulinomas samples. It is noteworthy that the T372R mutation was the first reported in public available databases such as 1,000 Genomes and dbSNP database. YY1 is a multifunctional protein, which takes part in regulating normal physiological progress such as development, differentiation, replication and cell proliferation. It also plays an important role in regulating insulin and insulin-like growth factor (IGF) signaling that is crucial for pancreatic β-cell survival and insulin secretion.   

Subsequently, researchers validated T372R mutation in 103 additional insulinomas samples. The results showed that 31 in 103 cases had the T372R mutation, providing evidence to support that T372R mutation is a pathogenic factor of insulinoma. In addition, they found T372R mutation could enhance the transcriptional activity of YY1. The mTOR inhibitor which has been approved to use for cancer treatment also can regulate the transcriptional activity of YY1.

Lin Li, Project Manager from BGI, said: "In this study, we conducted whole exome sequencing on sporadic insulinomas, and found the hotspot mutations of T372R in 30% insulinomas. The findings not only contribute new diagnostic and medical therapies of PNETs, but also provide new insights into diabetes studies."


'/>"/>

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

Related biology news :

1. Stanford scientists develop gene therapy approach to grow blood vessels in ischemic limbs
2. Queens scientists seek vaccine for Pseudomonas infection
3. Scientists produce eye structures from human blood-derived stem cells
4. American Society of Plant Biologists honors early career women scientists
5. Brandeis scientists win prestigious prize for circadian rhythms research
6. Scientists discover new method of proton transfer
7. Salk scientists open new window into how cancers override cellular growth controls
8. WileyChina.com - Now Featuring Bespoke Pages for China’s Life Scientists
9. Scientists win $2 million to study new pathway in development and maintenance of lymphoma
10. UGA scientists reveal genetic mutation depicted in van Goghs sunflower paintings
11. Genetic mutation depicted in van Goghs sunflower paintings revealed by scientists
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/14/2017)... -- IBM (NYSE: IBM ) is introducing several innovative partner ... developing collaboration between startups and global businesses, taking place in ... event, nine startups will showcase the solutions they have built ... France is one of ... 30 percent increase in the number of startups created between ...
(Date:5/6/2017)... RAM Group , Singaporean based ... in biometric authentication based on a novel  ... to perform biometric authentication. These new sensors are based on ... Ram Group and its partners. This sensor will have ... and security. Ram Group is a next generation ...
(Date:4/17/2017)... , April 17, 2017 NXT-ID, Inc. ... company, announces the filing of its 2016 Annual Report on Form ... Exchange Commission. ... Form 10-K is available in the Investor Relations section of the ... on the SEC,s website at http://www.sec.gov . 2016 ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... , ... October 11, 2017 , ... ... President Andi Purple announced Dr. Suneel I. Sheikh, the co-founder, CEO and ... Labs ), Inc. has been selected for membership in ARCS Alumni Hall ...
(Date:10/11/2017)... ... 2017 , ... ComplianceOnline’s Medical Device Summit is back for its 4th year. ... San Francisco, CA. The Summit brings together current and former FDA office bearers, regulators, ... government officials from around the world to address key issues in device compliance, quality ...
(Date:10/11/2017)... and LAGUNA HILLS, Calif. , Oct. 11, ... Research, London (ICR) and University of ... SkylineDx,s prognostic tool to risk-stratify patients with multiple myeloma (MM), ... nine . The University of Leeds ... funded by Myeloma UK, and ICR will perform the testing ...
(Date:10/11/2017)... , ... October 11, 2017 , ... ... (FDA) has granted orphan drug designation to SBT-100, its novel anti-STAT3 (Signal Transducer ... treatment of osteosarcoma. SBT-100 is able to cross the cell membrane and bind ...
Breaking Biology Technology: