Research team helps father discover source of son's disability

Research team helps father discover source of son’s disability
Credit: Yale University

The severe learning disabilities of a teenager in the Netherlands were caused by a genetic mutation that affects the function of ribosomes, the cellular protein-making factories crucial to all life. The new finding by an international collaboration of scientists adds to list of newly identified diseases called ribosomopathies.

The research began in 2013 when Marc Pieterse contacted Susan Baserga, an expert on ribosomes, about the condition of his son, Vincent. Baserga is professor of and biochemistry, genetics and at Yale.

Vincent, then 10, suffers from a form of microcephaly, severe learning disabilities, unusual facial characteristics, and some . Geneticists sequenced his genome and found a mutation in the ribosomal protein uS12. However, it was unclear whether the mutation played a role in Vincent's condition.

An M.D./Ph.D. candidate in Baserga's lab, Sam Sondalle, found that the mutation indeed reduced protein function in yeast. Subsequent work with researchers in the Netherlands, the United Kingdom, France, and the University of Maryland helped confirm and extend the findings that the mutation in uS12 caused birth defects in young Pieterse and similar abnormalities in another individual. The findings were published in March 2 in the American Journal of Human Genetics.

"I hope in the long run many patients will benefit from this work," said Marc Pieterse.


Explore further

Research asks why genetic mutation leads to decreased triglycerides in blood

Provided by Yale University
Citation: Research team helps father discover source of son's disability (2017, March 10) retrieved 21 September 2019 from https://medicalxpress.com/news/2017-03-team-father-source-son-disability.html
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.
0 shares

Feedback to editors

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more