PET PET
  • My Account
  • Subscribe
Become a Friend Donate
  • About Us
    • People
    • Press Office
    • Our History
  • Get Involved
    • Become a Friend of PET
    • Volunteer
    • Campaigns
    • Writing Scheme
    • Partnership and Sponsorship
    • Advertise with Us
  • Donate
    • Become a Friend of PET
  • BioNews
    • News
    • Comment
    • Reviews
    • Elsewhere
    • Topics
    • Glossary
    • Newsletters
  • Events
    • Upcoming Events
    • Previous Events
  • Engagement
    • Policy and Projects
      • Resources
    • Education
  • Jobs & Opportunities
  • Contact Us
  • About Us
    • People
    • Press Office
    • Our History
  • Get Involved
    • Become a Friend of PET
    • Volunteer
    • Campaigns
    • Writing Scheme
    • Partnership and Sponsorship
    • Advertise with Us
  • Donate
    • Become a Friend of PET
  • BioNews
    • News
    • Comment
    • Reviews
    • Elsewhere
    • Topics
    • Glossary
    • Newsletters
  • Events
    • Upcoming Events
    • Previous Events
  • Engagement
    • Policy and Projects
      • Resources
    • Education
  • Jobs & Opportunities
  • Contact Us
  • My Account
  • Subscribe
  • Privacy Statement
  • Advertising Policy
  • Thanks and Acknowledgements
PETBioNewsNewsMutations identified for severe developmental disease found among Moroccan Jews

BioNews

Mutations identified for severe developmental disease found among Moroccan Jews

Published 17 March 2014 posted in News and appears in BioNews 746

Author

Dr Rachel Montgomery

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.

Researchers have pinpointed two genetic mutations behind a severe developmental disease seen in children of Moroccan Jewish descent...

Researchers have pinpointed two genetic mutations behind a severe
developmental disease seen in children of Moroccan Jewish descent.

Scientists at Ben-Gurion
University of the Negev, Israel, studied ten patients from four
families that have PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2).

Children who have the disease appear
normal at birth and develop as expected until about six months. However, by one
year, patients develop brain atrophy (a loss of brain cells), mental
retardation and epilepsy. At three years old, most patients will be in a
near-vegetative state.

The work to find the gene behind the
condition was led by Professor Ohad Birk and Miora Feinstein, a doctoral student.
They found that the disease is caused by two different mutations in the same
gene - VPS53.

The exact reasons why
VPS53 mutations cause PCCA2 are unclear. However, the researchers that the tiny
pockets that carry material around cells, called endosomes, do not move around
like they should. As a result, waste material, which should
be broken down and destroyed, builds up within the cell.

Professor Birk's group has now discovered more than 20 genetic diseases found in people of Arab and Sephardi Jewish backgrounds. In 2010, they identified mutations in a gene called SESPSECS, which prevent the mineral selenium
from being used in the body and cause a very similar disease called PCCA.

'There was an idea that Ashkenazi
Jews have more disease than others, but when one begins looking at Sephardic Jewish
diseases, they are there', Professor Birk said.

'They have just not been sorted out.
Because they have not been sorted out, there was no carrier testing, no
prevention programmes or anything. I have shifted part of my lab into this,
into Jewish non-Ashkenazi - or Sephardic Jewish - diseases'.

PCCA2 is a recessive disease, meaning that both
parents must be carriers of a VPS53 mutation. Children have a 25 percent risk of inheriting two mutated copies of
VPS53, and having the disease.

As one in 37
Moroccan Jews carry VPS53 mutations, PCCA2 is now the most common severe genetic disease in this community.

Fifteen percent of Israel's population (one million people) is of Moroccan ancestry. Nearly 100,000 Moroccan Jews also live in the USA, meaning a large number of people are at risk of inheriting the disease.

Carrier testing for SESPSECS
mutations was introduced in 2011 for all Jews of Moroccan or Iraqi ancestry. Now researchers have called
for routine carrier screening for VSP53 mutations as well. This might even
start within the year, and could help reduce the number of people inheriting
the disease.

The study was published in the the Journal of Medical Genetics.

Related Articles

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
15 May 2017 • 2 minutes read

Most people harbour at least one lethal mutation

by Chris Baldacci

Geneticists have estimated that each of us carries an average of one or two lethal, but recessive, genes in our DNA...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
22 November 2013 • 1 minute read

First UK-wide rare disease strategy launched

by Dr Lucy Freem

A strategy to improve diagnosis, research, and treatment of rare diseases has been launched by the UK Government...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
25 October 2013 • 1 minute read

Rare Disease Genomes Project to sequence 10,000 whole genomes

by Dr Lucy Freem

A three-year joint project to sequence the genomes of 10,000 rare disease patients has been announced by the University of Cambridge, Genomics England and Illumina...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
13 May 2013 • 2 minutes read

Birthmark gene find offers hope for rare neurological condition

by Dr Linda Wijlaars

A genetic mutation responsible for both Sturge-Weber syndrome, a rare neurological disorder, and 'port-wine stain' birthmarks, has been identified...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
15 March 2013 • 2 minutes read

Genetic mutation for mental retardation found in Amish community

by Dr Antony Starza-Allen

A genetic mutation linked to mental retardation has been identified in an Amish community in the USA....

Leave a Reply Cancel reply

You must be logged in to post a comment.

« Hurdles ahead for whole genome sequencing

Data-Label The UK's Leading Supplier Of Medical Labels & Asset Labels

RetiringDentist.co.uk The UK's Leading M&A Company.
easyfundraising
amazon

This month in BioNews

  • Popular
  • Recent
13 June 2022 • 2 minutes read

Drop in diversity of blood stem cells leads to old-age health issues

27 June 2022 • 2 minutes read

UK report reveals public attitudes to fertility, genomics and embryo research

27 June 2022 • 2 minutes read

Shortage of sperm donors despite men willing to donate

27 June 2022 • 2 minutes read

North East London CCG proposes offering three funded IVF cycles

27 June 2022 • 2 minutes read

Fibrosis drugs reverse ovarian ageing in mice

27 June 2022 • 2 minutes read

Gene implicated in motor neurone diseases discovered

Subscribe to BioNews and other PET updates for free.

Subscribe
  • Twitter
  • Facebook
  • Instagram
  • LinkedIn
  • YouTube
  • RSS
Wellcome
Website redevelopment supported by Wellcome.

Website by Impact Media Impact Media

  • Privacy Statement
  • Advertising Policy
  • Thanks and Acknowledgements

© 1992 - 2022 Progress Educational Trust. All rights reserved.

Limited company registered in England and Wales no 07405980 • Registered charity no 1139856

Subscribe to BioNews and other PET updates for free.

Subscribe
PET PET

PET is an independent charity that improves choices for people affected by infertility and genetic conditions.

  • Twitter
  • Facebook
  • Instagram
  • LinkedIn
  • YouTube
  • RSS
Wellcome
Website redevelopment supported by Wellcome.

Navigation

  • About Us
  • Get Involved
  • Donate
  • BioNews
  • Events
  • Engagement
  • Jobs & Opportunities
  • Contact Us

BioNews

  • News
  • Comment
  • Reviews
  • Elsewhere
  • Topics
  • Glossary
  • Newsletters

Other

  • My Account
  • Subscribe

Website by Impact Media Impact Media

  • Privacy Statement
  • Advertising Policy
  • Thanks and Acknowledgements

© 1992 - 2022 Progress Educational Trust. All rights reserved.

Limited company registered in England and Wales no 07405980 • Registered charity no 1139856