Featured Research

from universities, journals, and other organizations

Common molecular defect offers treatment hope for group of rare disorders

Date:
April 1, 2014
Source:
Duke Medicine
Summary:
Researchers studying tiny, antennae-like structures called cilia have found a potential way to ease some of the physical damage of numerous genetic disorders that result when these essential cellular components are defective. Different genetic defects cause dysfunction of the cilia, which often act as sensory organs that receive signals from other cells. Individually, disorders involving cilia are rare, but collectively the more than 100 diseases in the category known as ciliopathies affect as many as one in 1,000 people.

Duke Medicine researchers studying tiny, antennae-like structures called cilia have found a potential way to ease some of the physical damage of numerous genetic disorders that result when these essential cellular components are defective.

Different genetic defects cause dysfunction of the cilia, which often act as sensory organs that receive signals from other cells. Individually, disorders involving cilia are rare, but collectively the more than 100 diseases in the category known as ciliopathies affect as many as one in 1,000 people. Ciliopathies are characterized by cognitive impairment, blindness, deafness, kidney and heart disease, infertility, obesity and diabetes.

Recent research has added key insights into the overall role and function of cilia in cells and what occurs when the organelle is defective.

"Cilia are required for regulation of a whole host of signaling pathways for cellular development," said Nicholas Katsanis, PhD, professor of cell biology and director of the Center for Human Disease Modeling at Duke. "They are not the only signaling regulators, but they are critical. It's been important for us to understand how they do this."

In the current study, published April 1, 2014, in the Journal of Clinical Investigation, Katsanis and colleagues describe a common mechanism that appears to account for how dysfunctional cilia cause so many different problems in cellular signaling pathways.

Using both cells and animal models, they focused on the ubiquitin-proteasome system, the cell's machinery tasked with regulating the cellular environment by breaking down proteins that are either damaged or in need of removal.

"Imagine regular housekeeping" Katsanis said. "Taking out waste is part and parcel to the process, but not if you end up throwing away your valuables."

The researchers also set out to test whether they could somehow bolster the function of the proteasome to see if this would have a therapeutic effect. When non-defective genes were introduced in zebrafish, the animals showed physical improvements indicative of corrections in multiple signaling pathways, Katsanis said.

More significantly, similar improvements occurred in the animals by administering common compounds, including mevalonic acid and the nutritional supplement sulforaphane, an antioxidant found in broccoli and other cruciferous vegetables. Both are known to improve proteasomal activity.

"While the animals were not as good as normal controls, they were much better -- we saw clear physical improvement with each of the compounds," Katsanis said. "This now gives us a hypothesis that explains at least in part why, for whatever reason ciliopathy is caused, it can result in different signaling pathways going awry, and a potential avenue for therapies."

Katsanis said additional research should focus on the proteasome system, and other potential therapeutic targets that could improve the proteasome.

"Understanding cilia dysfunction is important, because its association with so many disorders pose a significant societal and medical burden. And we look forward to seeing wither the insights we have learned in these studies are applicable to other diseases," Katsanis said, adding that more work will be required to follow up this lead.

"As exciting as these findings are, we need to act cautiously and responsibly before we jump into clinical trials in humans," he said. "Nonetheless, there is now a clear path toward that goal."


Story Source:

The above story is based on materials provided by Duke Medicine. Note: Materials may be edited for content and length.


Cite This Page:

Duke Medicine. "Common molecular defect offers treatment hope for group of rare disorders." ScienceDaily. ScienceDaily, 1 April 2014. <www.sciencedaily.com/releases/2014/04/140401122323.htm>.
Duke Medicine. (2014, April 1). Common molecular defect offers treatment hope for group of rare disorders. ScienceDaily. Retrieved July 25, 2014 from www.sciencedaily.com/releases/2014/04/140401122323.htm
Duke Medicine. "Common molecular defect offers treatment hope for group of rare disorders." ScienceDaily. www.sciencedaily.com/releases/2014/04/140401122323.htm (accessed July 25, 2014).

Share This




More Plants & Animals News

Friday, July 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Boy Attacked by Shark in Florida

Boy Attacked by Shark in Florida

Reuters - US Online Video (July 24, 2014) An 8-year-old boy is bitten in the leg by a shark while vacationing at a Florida beach. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Goma Cheese Brings Whiff of New Hope to DRC

Goma Cheese Brings Whiff of New Hope to DRC

Reuters - Business Video Online (July 24, 2014) The eastern region of the Democratic Republic of Congo, mainly known for conflict and instability, is an unlikely place for the production of fine cheese. But a farm in the village of Masisi, in North Kivu is slowly transforming perceptions of the area. Known simply as Goma cheese, the Congolese version of Dutch gouda has gained popularity through out the region. Ciara Sutton reports. Video provided by Reuters
Powered by NewsLook.com
Tyrannosaur Pack-Hunting Theory Aided By New Footprints

Tyrannosaur Pack-Hunting Theory Aided By New Footprints

Newsy (July 24, 2014) A new study claims a set of prehistoric T-Rex footprints supports the theory that the giant predators hunted in packs instead of alone. Video provided by Newsy
Powered by NewsLook.com
Bill Gates: Health, Agriculture Key to Africa's Development

Bill Gates: Health, Agriculture Key to Africa's Development

AFP (July 24, 2014) Health and agriculture development are key if African countries are to overcome poverty and grow, US software billionaire Bill Gates said Thursday, as he received an honourary degree in Ethiopia. Duration: 00:36 Video provided by AFP
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