• HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
Sunday, August 3, 2025
BIOENGINEER.ORG
No Result
View All Result
  • Login
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
No Result
View All Result
Bioengineer.org
No Result
View All Result
Home NEWS Science News Biology

Researchers publish largest description of ST3GAL5 (GM3 Synthase) deficiency

Bioengineer by Bioengineer
February 5, 2019
in Biology
Reading Time: 3 mins read
0
Share on FacebookShare on TwitterShare on LinkedinShare on RedditShare on Telegram

Researchers have combined the largest description of ST3GAL5 (GM3 synthase) deficiency using detailed natural history data from 104 individuals of Amish ancestry born between 1986 and 2017 with a definite or probable diagnosis of ST3GAL5 deficiency

STRASBURG, PA- Researchers have combined the largest description of ST3GAL5 (GM3 synthase) deficiency using detailed natural history data from 104 individuals of Amish ancestry born between 1986 and 2017 with a definite or probable diagnosis of ST3GAL5 deficiency. The study examined objective measures of biochemistry, auditory function, brain development, and caregiver burden. GM3 synthase is encoded by ST3GAL5, and is essential for synthesis of the most biologically relevant gangliosides in mammals.

The study, led by clinicians, represents a collaborative effort by the Plain Community Health Consortium (PCHC). PCHC is a network of non-profit clinics across five states that diagnose and treat rare genetic disorders in children from the Anabaptist communities. In addition to the Clinic for Special Children, the PCHC clinics include Center for Special Children in La Farge, WI, The Community Health Clinic in Topeka, IN, Nemours duPont Pediatrics in Dover, DE and New Leaf Center in Eaton, OH. The study appears in this month’s issue of Molecular Genetics and Metabolism.

The report includes a detailed clinical characterization of the ST3GAL5 deficiency phenotype, which includes somatic growth failure, progressive microcephaly, irritability, blindness, deafness, involuntary movements, intractable seizures, and psychomotor arrest. Researchers used available medical records and structured interviews as the basis for data collection within Amish populations across five states. In addition to records and interviews, electroencephalograms (EEGs), audiology tests, irritability, and Parent Stress indexes, genealogical records, glycosphingolipid analysis, and newborn hearing screens were used to fully characterize the natural course of this rare and devastating disease.

This comprehensive study provides a rich baseline against which to judge the effectiveness of new disease-modifying therapies. ST3GAL5 deficiency is often diagnosed within hours of life, before the onset of neurological damage, which has motivated efforts to develop pre-symptomatic therapies. Liver transplantation might provide some benefit to children with the ST3GAL5 deficiency, but is contingent on the passage of GM3 through the blood-brain barrier. ST3GAL5 gene replacement holds promise but faces two significant obstacles. Current adeno-associated viral (AAV) gene vectors deliver to only a minority of central neurons. Strategies for better AAV design or repeat dosing may circumvent this problem. Mice have been useful in understanding human ST3GAL5 deficiency but pose challenges for pre-clinical treatment studies. Pigs more closely model human neurodevelopment and may prove more suitable for studying ganglioside-deficient brain diseases. While the study’s initial findings suggest that these therapies might be successful for ST3GAL5 deficiency, researchers note that in-depth studies are warranted to determine the best potential treatments for ST3GAL5 deficiency.

###

The research was conducted by a team including the study’s lead author Lauren E. Bowser, from the Clinic for Special Children, Strasburg, PA; senior author Kevin A. Strauss from the Clinic for Special Children, Strasburg, PA; Millie Young, Karlla W. Brigatti, Vincent J. Carson, Erik G. Puffenberger, Donna L. Robinson, Christine Hendrickson, and Adam D. Heaps from the Clinic for Special Children, Strasburg, PA, Olivia K. Wenger from the New Leaf Center, Mount Eaton, OH, Zineb Ammous and Teresa Moser from the Community Health Clinic, Topeka, IN, James Deline from the Center for Special Children, La Farge, WI, Kazuhiro Aoki and Michael Tiemeyer from Complex Carbohydrate Research Center, University of Georgia, Athens, GA, Thierry Morlet from Auditory Physiology and Psychoacoustics Research Laboratory, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, Ethan M. Scott from Department of Pediatrics, Akron Children’s Hospital, Akron, OH, Jonathan Salvin from the Division of Pediatric Ophthalmology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, and Steven Gottlieb of the Division of Pediatric Neurology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE.

This study was funded in part by LaJolla Pharmaceuticals, Inc. (LaJolla, CA). No author received direct compensation or holds a commercial interest in the company.

About the Clinic for Special Children

The Clinic for Special Children (CSC) is a non-profit organization located in Strasburg, PA, which provides primary pediatric care and advanced laboratory services to those who suffer from genetic or other complex medical disorders. Founded in 1989, the organization provides services to over 1,0750 active patients and is recognized as a world-leader in translational and precision medicine. The organization is primarily supported through community fundraising events and donations. For more information, please visit http://www.ClinicforSpecialChildren.org

Media Contact
Kelly Cullen
[email protected]
717-687-9407

Related Journal Article

https://clinicforspecialchildren.org/wp-content/uploads/2019/02/CSC-GM3-Press-Release-02.19.pdf
http://dx.doi.org/10.1016/j.ymgme.2019.01.013

Tags: CollaborationGene TherapyGenesGeneticsMedicine/HealthMetabolism/Metabolic DiseasesOrganizationPediatricsPublic HealthResearchers/Scientists/Awards
Share12Tweet8Share2ShareShareShare2

Related Posts

blank

CK2–PRC2 Signal Drives Plant Cold Memory Epigenetics

August 2, 2025
blank

AI-Driven Protein Design Advances T-Cell Immunotherapy Breakthroughs

August 1, 2025

Melanthiaceae Genomes Reveal Giant Genome Evolution Secrets

August 1, 2025

“Shore Wars: New Study Tackles Oyster-Mangrove Conflicts to Boost Coastal Restoration”

August 1, 2025
Please login to join discussion

POPULAR NEWS

  • Blind to the Burn

    Overlooked Dangers: Debunking Common Myths About Skin Cancer Risk in the U.S.

    60 shares
    Share 24 Tweet 15
  • Neuropsychiatric Risks Linked to COVID-19 Revealed

    48 shares
    Share 19 Tweet 12
  • Dr. Miriam Merad Honored with French Knighthood for Groundbreaking Contributions to Science and Medicine

    46 shares
    Share 18 Tweet 12
  • Study Reveals Beta-HPV Directly Causes Skin Cancer in Immunocompromised Individuals

    38 shares
    Share 15 Tweet 10

About

We bring you the latest biotechnology news from best research centers and universities around the world. Check our website.

Follow us

Recent News

Predicting Hidden Cervical Cancer via Cytology, ECC

High-Capacity Phase-Sensitive Amplification In Fiber

Old Mitochondria Drive Stem Cell Niche Renewal

  • Contact Us

Bioengineer.org © Copyright 2023 All Rights Reserved.

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • Homepages
    • Home Page 1
    • Home Page 2
  • News
  • National
  • Business
  • Health
  • Lifestyle
  • Science

Bioengineer.org © Copyright 2023 All Rights Reserved.