Featured Research

from universities, journals, and other organizations

Scientists identify mutations that cause congenital cataracts

Date:
June 3, 2011
Source:
Cell Press
Summary:
New research identifies genetic mutations that cause an inherited form of cataracts in humans. The study provides new insight into the understanding of lens transparency and the development of cataracts in humans.

New research identifies genetic mutations that cause an inherited form of cataracts in humans. The study, published online June 2 in the American Journal of Genetics, provides new insight into the understanding of lens transparency and the development of cataracts in humans.

A cataract is a clouding of the crystalline lens in the eye. Opacity of the normally transparent lens obstructs the passage of light into the eye and can lead to blindness. Congenital cataracts (CCs) are a significant cause of vision loss worldwide and underlie about one-third of the cases of blindness in infants. "Autosomal-recessive CCs form a clinically diverse and genetically heterogeneous group of lens disorders," explains senior study author Dr. J. Fielding Hejtmancik from the National Eye Institute in Bethesda, Maryland. "Although several genes and genetic regions have been implicated in the rare nonsyndromic form of autosomal-recessive CCs, in many cases the mutated gene remains unknown or uncharacterized."

One candidate gene that has been identified as playing a role in lens biology and in the pathogenesis of autosomal-recessive CCs is FYCO1. As part of an ongoing collaboration between the National Eye Institute in Bethesda MD and the National Center for Excellence in Molecular Biology and the Allama Iqbal Medical College in Lahore, Pakistan, Dr. Hejtmancik and colleagues performed a sophisticated genome-wide analysis of unrelated consanguineous families (in which both parents are descended from the same ancestor) of Pakistani origin and identified mutations in FYCO1 in 12 Pakistani families and one Arab Israeli family with autosomal-recessive CCs. The researchers went on to show that FYCO1 is expressed in the embryonic and adult mouse lens.

Both the high frequency of FYCO1 mutations and the recessive inheritance pattern seen in the families support the idea that autosomal-recessive CCs might result from a loss of FYCO1 function. The FYCO1 protein has been shown to play a role in "autophagy," a process that is necessary for degrading unwanted proteins. To become transparent, lens cells must get rid of some of their protein components, and the researchers suggest that as lens cells lose their organelles during development, abnormal accumulation of protein aggregates might play a role in the loss of lens transparency.

Taken together, the results implicate FYCO1 in lens development and transparency in humans and FYCO1 mutations as a cause of autosomal-recessive CCs in the Pakistani population. "Our study provides a new cellular and molecular entry point to understanding lens transparency and human cataract," concludes Dr. Hejtmancik. "In addition, because of the frequency of FYCO1 mutation in the Pakistani population, it might be useful in genetic diagnosis and possible even improved future cataract treatment and prevention."


Story Source:

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


Journal Reference:

  1. Jianjun Chen, Zhiwei Ma, Xiaodong Jiao, Robert Fariss, Wanda Lee Kantorow, Marc Kantorow, Eran Pras, Moshe Frydman, Elon Pras, Sheikh Riazuddin et al. Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts. The American Journal of Human Genetics, 02 June 2011 DOI: 10.1016/j.ajhg.2011.05.008

Cite This Page:

Cell Press. "Scientists identify mutations that cause congenital cataracts." ScienceDaily. ScienceDaily, 3 June 2011. <www.sciencedaily.com/releases/2011/06/110602122246.htm>.
Cell Press. (2011, June 3). Scientists identify mutations that cause congenital cataracts. ScienceDaily. Retrieved April 16, 2014 from www.sciencedaily.com/releases/2011/06/110602122246.htm
Cell Press. "Scientists identify mutations that cause congenital cataracts." ScienceDaily. www.sciencedaily.com/releases/2011/06/110602122246.htm (accessed April 16, 2014).

Share This



More Health & Medicine News

Wednesday, April 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com
Ebola Outbreak Now Linked To 121 Deaths

Ebola Outbreak Now Linked To 121 Deaths

Newsy (Apr. 15, 2014) The ebola virus outbreak in West Africa is now linked to 121 deaths. Health officials fear the virus will continue to spread in urban areas. Video provided by Newsy
Powered by NewsLook.com
Cognitive Function: Is It All Downhill From Age 24?

Cognitive Function: Is It All Downhill From Age 24?

Newsy (Apr. 15, 2014) A new study out of Canada says cognitive motor performance begins deteriorating around age 24. Video provided by Newsy
Powered by NewsLook.com
How Mt. Everest Helped Scientists Research Diabetes

How Mt. Everest Helped Scientists Research Diabetes

Newsy (Apr. 15, 2014) British researchers were able to use Mount Everest's low altitudes to study insulin resistance. They hope to find ways to treat diabetes. Video provided by Newsy
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