About Careers MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

Model Developed Using Adult Stem Cells for Rare Disorder

by Julia Samuel on April 21, 2016 at 4:29 PM
Font : A-A+

Model Developed Using Adult Stem Cells for Rare Disorder

An innovative stem-cell model for a fatal developmental disorder has been discovered by a Sanford Research scientist.

Kevin Francis, Ph.D. uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells.

Advertisement


SLOS is a rare developmental disorder caused by mutations in the enzyme DHCR7 responsible for the final step in the production of cholesterol. DHCR7 mutations prevent 7-dehydrocholesterol (7DHC) conversion to cholesterol.

Impaired cholesterol synthesis underlies a group of human disorders, including SLOS, that are characterized by cognitive impairment, congenital malformations and distinct behavioral phenotypes, including autism. Specific to SLOS, patients experience delayed development and malformations in certain organs like the brain, heart and liver.
Advertisement

Francis and his team used induced pluripotent stem cells, which have the ability to form many types cells, derived from patient skin cells to reveal novel changes in cellular events regulated by cholesterol synthesis, including a set of proteins critical for brain development and function known as the Wnt signaling pathway. Further, Francis noted that 7DHC accumulation, not cholesterol deficiency, was a hallmark of these cells.



Source: Newswise
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
What's New on Medindia
Test  Your Knowledge on Heart
Test Your Knowlege on Genes
Obesity in Teens Make Inroads into Early Atrial Fibrillation
View all
Recommended Reading
News Archive
Date
Category
Advertisement
News Category

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Stem Cells - Cord Blood Stem Cells - Fundamentals Parkinsons Disease Surgical Treatment Genetics and Stem Cells Bone Marrow Transplantation Tissue Engineering and Regenerative Medicine Stem Cells Loss of Taste Stem Cell Therapy 

Most Popular on Medindia

Find a Doctor Accident and Trauma Care The Essence of Yoga Nutam (400mg) (Piracetam) Iron Intake Calculator Blood - Sugar Chart Selfie Addiction Calculator Pregnancy Confirmation Calculator Post-Nasal Drip Drug Side Effects Calculator
This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use
×

Model Developed Using Adult Stem Cells for Rare Disorder Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests