ELIZABETH KELLEY

Mental DisabilitY BLOG.

  • HOME
  • BIO
  • BOOKS
  • FAQS
  • NEWSLETTERS & PRESS
  • MENTAL DISABILITY BLOG
  • FEDERAL PRACTICE
  • TESTIMONIALS
  • CONTACT

1/20/2020

New Intellectual Disability Syndrome Discovered by Researchers

Read Now
 
Picture
​More than 200 million people around the world are affected by an intellectual disability. Yet not much is known about the genetics or molecular pathways behind intellectual disability. Researchers recently discovered a new form of intellectual disability that is especially prevalent in countries where marriages between genetically related individuals are common. The hope is that this research will provide a better understanding of the underlying genetics involved in intellectual disability. 
 
New Syndrome
 
The study uncovered five individuals from two unrelated families in Saudi Arabia and Pakistan who suffer from the syndrome. All five individuals had the same symptoms, which included intellectual disability, developmental delays, speech loss, small stature, low muscle tone, and in some cases, aggression and seizures. Analysis of the patients' DNA showed that they shared mutations in gene IQSEC1.
 
This was the first study to reveal that an IQSEC1 mutation could result in intellectual disability. Mutations in IQSEC2 and IQSEC3 have been previously implicated in intellectual disabilities. The researchers looked at fruit flies to determine whether the mutation was the cause of the intellectual disability and other symptoms. They eliminated the schizo gene in the fruit flies and replaced it with a functioning IQSEC1 gene and found that the flies behaved normally. When mutated IQSEC1 genes were placed in the flies, they found dead fruit fly embryos with severe neural defects. They found that variants in the gene produced nonfunctional IQSEC1 proteins. In addition, studies on mice showed that a deletion of the IQSEC1 protein resulted in defects in certain neural projections.
 
All of the individuals with the disability came from families where marriages between relatives were common. The individuals inherited two defective copies of IQSEC1, one from each parent. The defective copies of IQSEC1 produced altered proteins in the patients.  Further research must be done to uncover how prevalent this syndrome may be. 
 
If you or a loved one has a mental disability and has been arrested or convicted of a crime, you need an experienced criminal defense attorney on your side. Elizabeth Kelley specializes in representing individuals with mental disabilities. To schedule a consultation call (509) 991-7058.

Share


Comments are closed.
Details

    Archives

    March 2023
    February 2023
    January 2023
    December 2022
    November 2022
    October 2022
    September 2022
    August 2022
    July 2022
    June 2022
    May 2022
    April 2022
    March 2022
    February 2022
    January 2022
    November 2020
    October 2020
    September 2020
    August 2020
    July 2020
    June 2020
    May 2020
    April 2020
    March 2020
    February 2020
    January 2020
    December 2019
    November 2019
    October 2019
    September 2019
    August 2019

    Categories

    All

    RSS Feed

East Coast 
​
Elizabeth Kelley, Attorney at Law
5 Columbus Circle, Ste. 710
New York, NY 10019
West Coast
Elizabeth Kelley, Attorney at Law
2525 E 29th Ave., Ste. 10-B #225
Spokane, WA 99223
phone: 509.991.7058
email: zealousadvocacy@aol.com
Nothing contained on this website is to be considered as the rendering of legal advice for specific cases, and readers are responsible for obtaining such advice from their own legal counsel.
  • HOME
  • BIO
  • BOOKS
  • FAQS
  • NEWSLETTERS & PRESS
  • MENTAL DISABILITY BLOG
  • FEDERAL PRACTICE
  • TESTIMONIALS
  • CONTACT