• HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
Saturday, October 4, 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

NUS research brings new light to unsolved genetic diseases in children

Bioengineer by Bioengineer
June 29, 2022
in Biology
Reading Time: 4 mins read
0
Photo 1
Share on FacebookShare on TwitterShare on LinkedinShare on RedditShare on Telegram

The development of an embryo is a well-orchestrated string of processes, ensuring correct formation and positioning of vital organs of the growing organism. At the molecular level, these processes are controlled in a precise manner by switching on or off specific factors such as genes or proteins. Any errors in these processes could result in physical defects or disease in the newborn organism. 

Photo 1

Credit: National University of Singapore

The development of an embryo is a well-orchestrated string of processes, ensuring correct formation and positioning of vital organs of the growing organism. At the molecular level, these processes are controlled in a precise manner by switching on or off specific factors such as genes or proteins. Any errors in these processes could result in physical defects or disease in the newborn organism. 

A team of scientists from the National University of Singapore (NUS) led by Assistant Professor Xue Shifeng from the Department of Biological Sciences has discovered a new way to interpret unsolved Mendelian diseases – diseases inherited from either parent due to gene mutations in the developing egg or sperm – through studying the inheritance of a protein known as SMCHD1 which is coded by the SMCHD1 gene. Mutations in the SMCHD1 gene can cause diseases such as facioscapulohumeral muscular dystrophy (FSHD), and Bosma arhinia microphthalmia syndrome (BAMS) which is a muscle degenerative disorder, and which causes abnormalities of the nose and eyes. 

The researchers found that SMCHD1 from mothers controls the expression of a group of genes in offspring, known as the HOX genes, which determines the position of body parts in an embryo along the axis from its head to tail. The researchers also found that the inactivation of SMCHD1 in female zebrafish results in alterations to HOX gene expression leading to skeletal defects in their offspring.  

The study led by NUS researchers, in collaboration with A*STAR, Yale-NUS and Aix-Marseille University, was published in Nature Communications on 23 June 2022. 

Inheritance of mother’s genes and structural defects 

In mammals, SMCHD1 plays a key role in X-inactivation in females, a process where one of the copies of the X chromosome is randomly selected and disabled. This makes it challenging to study the role of the SMCHD1 gene inherited from mothers because inactivating the SMCHD1 gene is lethal for female mammals. 

The research team decided to use zebrafish, a vertebrate commonly used as a model organism in biomedical research, to circumvent this issue. Zebrafish lack X-inactivation, allowing the team to study the role of the SMCHD1 gene inherited from mothers. The researchers inactivated the SMCHD1 gene in zebrafish to study how it will affect gene expression and structural development in zebrafish offspring. 

NUS scientists observed that SMCHD1 protein is placed into the egg by the mother. The inactivation of the SMCHD1 gene in female zebrafish caused alterations in HOX gene expression in their fertilised eggs. HOX genes play an important role in ensuring the specific patterns and identities of different body parts in the baby. The loss of the SMCHD1 gene resulted in premature activation of HOX genes resulting in skeletal patterning defects in the zebrafish offspring.  

Asst Prof Xue and her team demonstrated a new concept that gene products such as proteins from the mother’s egg can control gene expression occurring in the developing embryo. Factors that control gene expression produced by the mother in the developing egg can set up the conditions for proper gene activation after the egg is fertilised with a sperm. Through further lab studies, the team found that the same principle applied to mammals. 

Interpreting unsolved genetic diseases 

The results of the study could change the way unsolved Mendelian diseases are interpreted. Based on this study, some genetic abnormalities in parents could manifest in their children, opening possibilities of explaining birth defects seen in children by examining the genetic make-up of their parents. 

“When we think about genetic diseases, we usually think that a mutation in the patient caused the disease. In our study, we found using zebrafish, the abnormalities in the offspring are not caused by a genetic mutation in the individual but in its mother. This will change how we think about unsolved inherited diseases,” said Asst Prof Xue. 

Future research 

Following their current study, the researchers hope to continue exploring how, at the molecular level, maternal genes control embryo gene expression after birth.  

“We want to understand, molecularly, what marks are left by the maternal SMCHD1 gene on the offspring’s genome that will affect the embryo. We are also interested in studying the SMCHD1 protein, its mutations that are involved in different diseases, as well as how it works,” shared Asst Prof Xue. 



Journal

Nature Communications

DOI

10.1038/s41467-022-31185-8

Method of Research

Experimental study

Subject of Research

Cells

Article Title

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

Article Publication Date

23-Jun-2022

Share12Tweet8Share2ShareShareShare2

Related Posts

blank

Revolutionary Graph Network Enhances Protein Interaction Prediction

October 4, 2025
DOG Gene Family in Wheat Drives Seed Dormancy

DOG Gene Family in Wheat Drives Seed Dormancy

October 4, 2025

Discovery of MrSTP20: Sugar Transporter in Salt Stress

October 4, 2025

SNARE Neofunctionalization Driven by Vacuole Retrieval

October 4, 2025

POPULAR NEWS

  • New Study Reveals the Science Behind Exercise and Weight Loss

    New Study Reveals the Science Behind Exercise and Weight Loss

    93 shares
    Share 37 Tweet 23
  • New Study Indicates Children’s Risk of Long COVID Could Double Following a Second Infection – The Lancet Infectious Diseases

    90 shares
    Share 36 Tweet 23
  • Physicists Develop Visible Time Crystal for the First Time

    75 shares
    Share 30 Tweet 19
  • New Insights Suggest ALS May Be an Autoimmune Disease

    69 shares
    Share 28 Tweet 17

About

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

Follow us

Recent News

Carers in Australia: Blessings and Challenges Explored

Gut Microbiome and Hormones in Postmenopausal Breast Cancer

Herbal Remedies for Hypertension: Insights from Trinidad

Subscribe to Blog via Email

Success! An email was just sent to confirm your subscription. Please find the email now and click 'Confirm' to start subscribing.

Join 62 other subscribers
  • 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.