Navigation Links
UCSF team describes genetic basis of rare human diseases
Date:7/8/2011

Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.

The work gives doctors new possible targets for designing better diagnostics to detect and drugs to treat these diseases, which together affect perhaps one in 200 people in the United States.

On the surface, these diseases look very different. Meckel syndrome causes deadly brain malformations and kidney cysts. Joubert syndrome strikes people with severe movement disorders. But the work of the UCSF-led team, published this week in the journal Nature Genetics, found similarities between the diseases at the molecular level.

"We think these diseases have a common underlying cause," said UCSF developmental biologist Jeremy Reiter. "They are fundamentally caused by defects in 'antenna' on cells."

Seen in Twins from Bangladesh

Technically known as cilia, these antennae are protrusions that dangle off cells and, like tiny receivers, allow the cells to explore and interact with their environment. Found everywhere from the brain to the eyes to the lungs in humans, these antennae also exist in creatures as diverse as gorillas, gnats, aardvarks and algae.

What cilia do depends on where they are in the body. In the eyes or deep within the nostrils, they are covered with sensory proteins and help capture light and odors, forming the basis of our senses of sight and smell. In the lungs, cilia move, helping to expel foreign particles from the airways. They also lend mobility to sperm.

This wide range of functions is also reflected in people with genetic disorders like Joubert syndrome, which affects cilia in specific parts of their body. People with these diseases suffer symptoms related to what those cilia do, such things as blindness, infertility or inability to smell.

Reiter and his colleagues looked at the DNA of twins from Bangladesh born with Joubert syndrome, and they showed how certain mutations associated with the disease work.

They found that these mutations lead to malfunctions in a protein called Tectonic1, one of several that forms a crucial collar around the base of a cilium.

You can think of the collar as a turnstile at the foot of a long bridge connecting a remote island to the mainland. If the turnstile is damaged, traffic stops, and there is no way to drive goods and passengers out to the island.

Similarly, mutations in Tectonic1 prevent the collar from forming correctly, and this causes defects in the cilia within the brain and ultimately leads to Joubert syndrome, Reiter and his colleagues determined. In cells, they showed that restoring a non-mutated form of the protein restores the function of the cilia.


'/>"/>

Contact: Jason Socrates Bardi
jason.bardi@ucsf.edu
415-502-6397
University of California - San Francisco
Source:Eurekalert  

Related medicine news :

1. Report describes the physics of the bends
2. Study describes health effects of occupational exposures in Paducah Gaseous Diffusion Plant workers
3. Certain genetic profiles associated with recurrence-free survival for non-small cell lung cancer
4. Obstructive Sleep Apnea in Kids May Have Genetic Cause
5. Epigenetic signals differ across alleles
6. Study reveals genetic link between mammographic density and breast cancer
7. Genetic Risk Score Doesnt Spot Heart Trouble in Women
8. Penn researchers find genetic link to leukemias with an unknown origin
9. Scientists Spot Genetic Fingerprints of Individual Cancers
10. Genetic health risks in children of assisted reproductive technology
11. Genetic Mutation Linked to Prostate Cancer in Blacks
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
UCSF team describes genetic basis of rare human diseases
(Date:5/27/2016)... ... ... With a team of certified experts, Validation Center is ... GMP accreditation, Validation Center is also a registered authority of the international system ... Validation Center is ISO17025 accredited and only offers its clients the latest technology, ...
(Date:5/26/2016)... ... 2016 , ... W.S. Badger Co. Inc ., the maker of certified ... Work Works Award for its use of effective workplace strategies to increase business and ... administered by the Families and Work Institute (FWI) and the Society for Human Resource ...
(Date:5/26/2016)... Atlanta, Georgia (PRWEB) , ... May 26, 2016 ... ... a certificate in intellectual property (IP) to its specialty academic programs. , Answering ... joins the college’s existing certificate programs in health law, and environmental and land ...
(Date:5/26/2016)... ... 2016 , ... The Woodlands at John Knox Village , Florida’s first ... for living and healing, celebrated its grand opening, today. The Woodlands at John Knox ... by Empowered Staff. , “This is an incredibly fulfilling time for John Knox Village ...
(Date:5/26/2016)... ... May 26, 2016 , ... MadgeTech will be showcasing its ... manufactured in Warner, New Hampshire at the MadgeTech headquarters. With products sold in more ... trusted by government agencies, including NASA. , In 2012, NASA strategically set up ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... , May 25, 2016 ... & Expo earlier this month, the numbers and momentum ... continue to climb into the billions, more research and ... released 4th Edition State of Legal Marijuana Markets Report ... cannabis-focused data-analysis firm, much of the increase in sector ...
(Date:5/25/2016)... ReportsnReports.com adds "Chronic Cough ... provides an overview on therapeutic pipeline of Chronic ... therapeutics assessment by drug target, mechanism of action ... along with latest updates, and featured news and ... in the therapeutic development for Chronic Cough and ...
(Date:5/24/2016)... HENDERSON, Nev. , May 24, 2016  Diana ... painfully "eats" her organs from the inside out.  This ... her completely dependent on her children and grandchildren to ... of her wheelchair, Diana,s family cannot haul the wheelchair.  ... rides in the car, and Diana is left to ...
Breaking Medicine Technology: