Navigation Links
Toronto researchers first to discover new genetic clue in the development of rheumatoid arthritis
Date:8/14/2011

(August 14, 2011Toronto, ON) Scientists at Mount Sinai Hospital, in collaboration with researchers at the University of Toronto, University Health Network and McGill University have obtained significant new insights into the causes of rheumatoid arthritis (RA) and other autoimmune disorders including type 1 diabetes, lupus and Graves disease.

The findings represent a key initial step in realizing the full potential of genomics and personalized medicine.

In a study published online today in Nature Genetics, Dr. Katherine Siminovitch and her team identified the exact means by which an alteration in the gene PTPN22 increases risk for RA and other autoimmune disorders. The study used advanced genomics technologies that enable testing of millions of genetic markers in a single experiment to identify genes, such as PTPN22, that confer risk for disease.

The team then generated a mouse genetic model to show how the PTPN22 gene mutation impairs immune cell function and then validating their findings in humans, taking their discovery from the laboratory bench to the clinic.

The result: a more accurate understanding of how autoimmune conditions develop, and how new diagnostic tests and targeted therapies can be designed for better symptom control and potential cure.

"Our findings are particularly exciting because this study sets a new precedent for studying arthritis and other autoimmune disorders," said lead author Dr. Siminovitch, Senior Investigator and the Sherman Family Research Chair in Genomic Medicine at the Samuel Lunenfeld Research Institute of Mount Sinai Hospital, a professor at the University of Toronto, and Director of the Fred A. Litwin & Family Centre in Genetic Medicine.

"This is one of the first studies in which we have traced the steps that connect a specific genetic lesion to the development of a common, complex autoimmune condition."

Led by Dr. Siminovitch, the group used genetically modified mice in which PTPN22 had been altered to mimic a genetic mutation found in many RA patients. The effects of this change on immune cells were observed in the mice, and the studies were then repeated in human blood samples from patients with and without RA. By this means, the group honed in on the impact of a key protein called Lyp/Pep thatin healthy cellsprevents the hyper-immune responses that lead to autoimmune disorders. The group found that this gene mutation leads to decreased levels of Lyp, thereby removing a natural brake that normally prevents the inflammatory processes underlying RA and many other autoimmune conditions.

"Measuring levels of this protein will help us monitor disease severity in patients with autoimmune disorders, test the effects of various therapies including new drugs, and determine which treatments work best in specific patients," said Dr. Edward Keystone, co-author of the study and Director of the Rebecca MacDonald Centre for Arthritis and Autoimmune Disease at Mount Sinai Hospital. "We are truly seeing genomics in action with this study, and the results give us new hope for improving patient outcomes."

Dr. Keystone emphasized the importance of this type of research to the practice of medicine in general, noting that advances in genetics knowledge are allowing for earlier diagnoses and more personalized treatments that give patients better outcomes.

"Using the powerful genetic tools now available, previously cryptic diseases are being dissected and their underlying causes identified," said Dr. Jim Woodgett, the Lunenfeld's Director of Research. "Drs. Siminovitch and Keystone are at the leading edge of employing these genomic approaches for the benefit of patients, seamlessly combining their research skills with clinical insights."


'/>"/>

Contact: Karin Fleming
fleming@lunenfeld.ca
Samuel Lunenfeld Research Institute
Source:Eurekalert

Related biology news :

1. York U researcher finds new bee in downtown Toronto
2. Research network based at University of Toronto gets $5 million boost to speed up cancer detection
3. University of Toronto study shows disparity of effect of climate change on UV radiation
4. University of Toronto helps to barcode the worlds plants
5. Researchers decode workings of mysterious, but critical TB drug
6. Researchers fight cholera with computer forecasting
7. Vanderbilt researchers, international team, uncover genes linked to multiple sclerosis
8. Narcissism may benefit the young, researchers report; but older adults? Not so much
9. York U researchers zero in on protein that may help treat obesity, diabetes
10. Researchers use human cells to engineer functional anal sphincters in lab
11. Researchers use neutrons to spy on the elusive hydronium ion
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/9/2016)... 9, 2016 Elevay is currently ... expanding freedom for high net worth professionals seeking travel ... globally connected world, there is still no substitute for ... duplicate sealing your deal with a firm handshake. This ... taking advantage of citizenship via investment programs like those ...
(Date:4/26/2016)... April 27, 2016 Research ... Multi-modal Biometrics Market 2016-2020"  report to their offering.  ... The analysts forecast the global multimodal ... 15.49% during the period 2016-2020.  Multimodal ... sectors such as the healthcare, BFSI, transportation, automotive, ...
(Date:4/13/2016)... , April 13, 2016  IMPOWER physicians supporting ... are setting a new clinical standard in telehealth thanks ... By leveraging the higi platform, IMPOWER patients can routinely ... pulse and body mass index, and, when they opt ... and convenient visit to a local retail location at ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... WI (PRWEB) , ... June 23, 2016 , ... ... supplements, is pleased to announce the launch of their brand, UP4™ Probiotics, into ... for over 35 years, is proud to add Target to its list of ...
(Date:6/23/2016)... June 23, 2016 /PRNewswire/ - FACIT has announced ... biotechnology company, Propellon Therapeutics Inc. ("Propellon" ... commercialization of a portfolio of first-in-class WDR5 inhibitors ... such as WDR5 represent an exciting class of ... precision medicine for cancer patients. Substantial advances have ...
(Date:6/23/2016)... , June 23, 2016 Houston ... with the Cy-Fair Sports Association to serve as ... the agreement, Houston Methodist Willowbrook will provide sponsorship ... and connectivity with association coaches, volunteers, athletes and ... with the Cy-Fair Sports Association and to bring ...
(Date:6/23/2016)... 2016  The Prostate Cancer Foundation (PCF) is pleased to announce ... cures for prostate cancer. Members of the Class of 2016 were selected from ... Read More About the Class of 2016 PCF Young Investigators ... ... ...
Breaking Biology Technology: