Featured Research

from universities, journals, and other organizations

Faulty gene stops cell 'antennae' from transmitting

Date:
May 31, 2010
Source:
University of California - San Diego
Summary:
Researchers have identified the genetic cause of an inherited condition that causes severe fetal abnormalities. The work should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening.

An international group of researchers has identified the genetic cause of an inherited condition that causes severe fetal abnormalities.

The work, co-led by geneticists at the UCSD Institute for Genomic Medicine, together with colleagues from institutes and universities in Paris, Rome and England, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening.

The researchers' findings -- which show how the disease gene stops cells' finger-like antennae or 'cilia' from detecting and relaying information -- may ultimately lead to treatments for more common related disorders, such as spina bifida, retinal blindness and polycystic kidney disease. The paper will be published May 30 issue in Nature Genetics.

"By understanding the science behind this relatively rare condition, we can gain insight into other pediatric diseases that are far more frequent," said UCSD researcher Joseph Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego School of Medicine and Howard Hughes Medical Institute Investigator, who directed the research. "Spina bifida, for example, is one of the most common birth defects, affecting one in every 1000 newborns."

Meckel-Gruber syndrome and Joubert syndrome are part of a wider family of disorders known as 'ciliopathies' -- so-called because the cilia are not working as they should and do not respond properly to signals.

This lack of communication can prevent growing embryos from developing a correct neural tube, which leads to abnormalities of the brain. Affected embryos can also develop abnormalities in the eyes, extra fingers or toes, and multiple cysts in their kidneys.

"These abnormalities are often observed in prenatal ultrasounds, but expectant parents want to have a sense of what their child will be like, will he or she learn to walk, talk, and see," said lead author Professor Enza Maria Valente from the Mendel Institute in Rome. "This type of research can give us answers to these important questions."

To find the gene responsible for Meckel-Gruber and Joubert syndromes, the researchers examined DNA from families with a history of the disorder, from skin cells donated by patients, and from cells grown in the laboratory. They also studied zebrafish, which were used because the embryos are transparent during development.

The work identified a previously unknown gene -- TMEM216 -- as a cause of Meckel-Gruber and Joubert syndromes. They also showed that the faulty TMEM216 gene stopped cells from making a protein that is needed for cilia signalling.

Because Meckel-Gruber and Joubert syndromes are recessive genetic disorders, only couples who both have a copy of the disease gene are at risk of conceiving babies with these birth defects. The condition is more common in certain close-knit populations where the gene has been passed down from generation to generation. These include families of Ashkenazi Jewish origin.

"Accurate genetic testing for TMEM216 will be particularly important for families throughout the world that have a history of ciliopathies caused by mutations to this gene," said Professor Attie-Bittach from the University of Paris.

"Now that we have identified a gene that causes Meckel-Gruber syndrome and Joubert syndrome, the role of particular signalling pathways as the embryo is developing can also be more clearly understood," added Professor Colin Johnson from the University of Leeds in the UK.

Additional contributors from the Neurogenetics Laboratory, Institute for Genomic Medicine, Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute at UC San Diego include Jeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, Jerlyn C Tolentino and Dominika Swistun.

This work was supported by the National Institutes of Health, the Italian Ministry of Health, Pierfranco and Luisa Mariani Foundation, American Heart Association, BDF Newlife, the Medical Research Council and the Sir Jules Thorn Charitable Trust, l'Agence National pour la Recherche, Burroughs Wellcome Fund, Howard Hughes Medical Institute and a National Research Service Award fellowship.


Story Source:

The above story is based on materials provided by University of California - San Diego. Note: Materials may be edited for content and length.


Journal Reference:

  1. Enza Maria Valente et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics, 2010; DOI: 10.1038/ng.594

Cite This Page:

University of California - San Diego. "Faulty gene stops cell 'antennae' from transmitting." ScienceDaily. ScienceDaily, 31 May 2010. <www.sciencedaily.com/releases/2010/05/100530144023.htm>.
University of California - San Diego. (2010, May 31). Faulty gene stops cell 'antennae' from transmitting. ScienceDaily. Retrieved September 21, 2014 from www.sciencedaily.com/releases/2010/05/100530144023.htm
University of California - San Diego. "Faulty gene stops cell 'antennae' from transmitting." ScienceDaily. www.sciencedaily.com/releases/2010/05/100530144023.htm (accessed September 21, 2014).

Share This



More Health & Medicine News

Sunday, September 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com
Jury Delivers Verdict in Salmonella Trial

Jury Delivers Verdict in Salmonella Trial

AP (Sep. 19, 2014) A federal jury has convicted three people in connection with an outbreak of salmonella poisoning five years ago that sickened hundreds of people and was linked to a number of deaths. (Sept. 19) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins