Featured Research

from universities, journals, and other organizations

Severe genetic disease prevalent in Moroccan Jews

Date:
March 10, 2014
Source:
American Associates, Ben-Gurion University of the Negev
Summary:
Researchers in Israel have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry. The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene. It results in defective circulation of vacuoles (endosomes) within patents' cells and leads to detrimental excessive storage of "junk" within the cells.

Ben-Gurion University of the Negev (BGU) researchers have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry, according to a study published this week online in the Journal of Medical Genetics.

The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene. It results in defective circulation of vacuoles (endosomes) within patents' cells and leads to detrimental excessive storage of "junk" within the cells.

Children who contract the disease are seemingly fine at birth and develop well until about six months of age. However, deterioration begins soon after with brain atrophy, severe retardation and epilepsy by age one.

One of every 37 Moroccan Jews carries one of the two mutations and based on the high carrier rate, PCCA2 is the most common severe genetic disease in Moroccan Jews discovered to date. Fifteen percent of Israel's total population (1 million people) is of Moroccan ancestry. Nearly 100,000 Moroccan Jews also live in the United States, largely in New York City, Washington D.C., Boston, and Florida.

In Israel, carrier testing and prenatal diagnosis of PCCA2 will enable eradication of this severe disease. Routine carrier testing in Moroccan Jews will likely begin within months. PCCA2 is a recessive disease: if both parents are carriers of a VPS53 mutation there is a 25 percent risk of the disease in each pregnancy.

The research team was led by Prof. Ohad Birk, head of the Genetics Institute at Soroka University Medical Center and the Morris Kahn Lab at the National Institute for Biotechnology in the Negev at BGU. The study was conducted by Miora Feinstein in Prof. Birk's lab as part of her doctoral thesis.The study was funded by the Israel Science Foundation and the Legacy Heritage Fund.

Prof. Ohad Birk's research has led to the discovery of more than 20 genetic diseases common in Arabs and in Sephardic Jews, providing insights into the nature of illness and unraveling molecular pathways of normal human development. In 2010, Prof. Birk's group discovered another gene for a similar disease, PCCA, which is also common in Jews of Moroccan and Iraqi descent.

Prof. Birk's translational approach has led to dozens of routine massive genetic carrier tests, prevention and practical eradication of numerous severe neurological disorders common in Arabs and in Sephardic/non-Ashkenazi Jews.

"There was an idea that Ashkenazi [of European descent] Jews have more disease than others, but when one begins looking at Sephardic Jewish diseases, they are there," Birk says. "They have just not been sorted out. Because they have not been sorted out, there was no carrier testing, no prevention programs or anything. I have shifted part of my lab into Jewish non-Ashkenazi -- or Sephardic Jewish -- diseases."

Ashkenazi Jewish diseases that now have carrier testing in the U.S. and Israel include Tay-Sachs disease, Canavan, Niemann-Pick, Gaucher, Familial Dysautonomia, Bloom Syndrome, Fanconi anemia, Cystic Fibrosis, and Mucolipidosis IV.


Story Source:

The above story is based on materials provided by American Associates, Ben-Gurion University of the Negev. Note: Materials may be edited for content and length.


Journal Reference:

  1. M. Feinstein, H. Flusser, T. Lerman-Sagie, B. Ben-Zeev, D. Lev, O. Agamy, I. Cohen, R. Kadir, S. Sivan, E. Leshinsky-Silver, B. Markus, O. S. Birk. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). Journal of Medical Genetics, 2014; DOI: 10.1136/jmedgenet-2013-101823

Cite This Page:

American Associates, Ben-Gurion University of the Negev. "Severe genetic disease prevalent in Moroccan Jews." ScienceDaily. ScienceDaily, 10 March 2014. <www.sciencedaily.com/releases/2014/03/140310144002.htm>.
American Associates, Ben-Gurion University of the Negev. (2014, March 10). Severe genetic disease prevalent in Moroccan Jews. ScienceDaily. Retrieved July 26, 2014 from www.sciencedaily.com/releases/2014/03/140310144002.htm
American Associates, Ben-Gurion University of the Negev. "Severe genetic disease prevalent in Moroccan Jews." ScienceDaily. www.sciencedaily.com/releases/2014/03/140310144002.htm (accessed July 26, 2014).

Share This




More Health & Medicine News

Saturday, July 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

AFP (July 24, 2014) A so-called drugs rehab 'clinic' is closed down in Pakistan after police find scores of ‘patients’ chained up alleging serial abuse. Duration 03:05 Video provided by AFP
Powered by NewsLook.com
Too Few Teens Receiving HPV Vaccination, CDC Says

Too Few Teens Receiving HPV Vaccination, CDC Says

Newsy (July 24, 2014) The Centers for Disease Control and Prevention is blaming doctors for the low number of children being vaccinated for HPV. Video provided by Newsy
Powered by NewsLook.com
New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Newsy (July 24, 2014) Sheik Umar Khan has treated many of the people infected in the Ebola outbreak, and now he's become one of them. 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