* . *
  • About
  • Advertise
  • Privacy & Policy
  • Contact
Wednesday, June 25, 2025
Earth-News
  • Home
  • Business
  • Entertainment
    George Lopez is coming to Spokane – KXLY.com

    George Lopez is coming to Spokane – KXLY.com

    Netflix unveils Dallas immersive venue for fans of hit shows like ‘Squid Game,’ ‘Stranger Things’ – Houston Chronicle

    Step Inside Netflix’s New Dallas Immersive Experience Featuring Hits Like ‘Squid Game’ and ‘Stranger Things

    ‘Puttin’ on the Ritz’: Civic Players bring ‘Young Frankenstein’ to life – Yahoo

    Civic Players Deliver a Hilarious and Unforgettable Performance of ‘Young Frankenstein

    ‘Wheel of Fortune’: Amputee Wins $60,000 After Breaking Incredible ‘Curse’ – Hastings Tribune

    Wheel of Fortune’ Amputee Breaks Incredible ‘Curse’ to Win $60,000!

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    Safety concerns in Deep Ellum create apprehension as the entertainment district gains visitors – CBS News

    Safety Concerns Surge Amid Deep Ellum’s Booming Popularity and Growing Crowds

  • General
  • Health
  • News

    Cracking the Code: Why China’s Economic Challenges Aren’t Shaking Markets, Unlike America’s” – Bloomberg

    Trump’s Narrow Window to Spread the Truth About Harris

    Trump’s Narrow Window to Spread the Truth About Harris

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Trending Tags

    • Trump Inauguration
    • United Stated
    • White House
    • Market Stories
    • Election Results
  • Science
  • Sports
  • Technology
    Frontdoor Announces Tech Expert Dr. Bala Ganesh as Chief Technology Officer – Business Wire

    Frontdoor Appoints Tech Visionary Dr. Bala Ganesh as New Chief Technology Officer

    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    China’s Military Introduces Mosquito-Sized Drones: A Game-Changing Surveillance Technology – Indian Defence Review

    China Unveils Mosquito-Sized Drones: Revolutionizing Surveillance Technology

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Promising Technology Stocks To Follow Today – June 22nd – MarketBeat

    Top Technology Stocks to Watch Today – June 22nd

    Technology Convergence Report 2025 – The World Economic Forum

    Technology Convergence Report 2025 – The World Economic Forum

    Trending Tags

    • Nintendo Switch
    • CES 2017
    • Playstation 4 Pro
    • Mark Zuckerberg
No Result
View All Result
  • Home
  • Business
  • Entertainment
    George Lopez is coming to Spokane – KXLY.com

    George Lopez is coming to Spokane – KXLY.com

    Netflix unveils Dallas immersive venue for fans of hit shows like ‘Squid Game,’ ‘Stranger Things’ – Houston Chronicle

    Step Inside Netflix’s New Dallas Immersive Experience Featuring Hits Like ‘Squid Game’ and ‘Stranger Things

    ‘Puttin’ on the Ritz’: Civic Players bring ‘Young Frankenstein’ to life – Yahoo

    Civic Players Deliver a Hilarious and Unforgettable Performance of ‘Young Frankenstein

    ‘Wheel of Fortune’: Amputee Wins $60,000 After Breaking Incredible ‘Curse’ – Hastings Tribune

    Wheel of Fortune’ Amputee Breaks Incredible ‘Curse’ to Win $60,000!

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    North Star Sports & Entertainment Network: Coming soon – KTTC News

    Safety concerns in Deep Ellum create apprehension as the entertainment district gains visitors – CBS News

    Safety Concerns Surge Amid Deep Ellum’s Booming Popularity and Growing Crowds

  • General
  • Health
  • News

    Cracking the Code: Why China’s Economic Challenges Aren’t Shaking Markets, Unlike America’s” – Bloomberg

    Trump’s Narrow Window to Spread the Truth About Harris

    Trump’s Narrow Window to Spread the Truth About Harris

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Trending Tags

    • Trump Inauguration
    • United Stated
    • White House
    • Market Stories
    • Election Results
  • Science
  • Sports
  • Technology
    Frontdoor Announces Tech Expert Dr. Bala Ganesh as Chief Technology Officer – Business Wire

    Frontdoor Appoints Tech Visionary Dr. Bala Ganesh as New Chief Technology Officer

    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    Defense technology giant Northrop Grumman to host interviews in Iuka to fill technician roles – supertalk.fm

    China’s Military Introduces Mosquito-Sized Drones: A Game-Changing Surveillance Technology – Indian Defence Review

    China Unveils Mosquito-Sized Drones: Revolutionizing Surveillance Technology

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Marvell Technology Stock Rallies After AI Event Sparks Investor Optimism – Yahoo Finance

    Promising Technology Stocks To Follow Today – June 22nd – MarketBeat

    Top Technology Stocks to Watch Today – June 22nd

    Technology Convergence Report 2025 – The World Economic Forum

    Technology Convergence Report 2025 – The World Economic Forum

    Trending Tags

    • Nintendo Switch
    • CES 2017
    • Playstation 4 Pro
    • Mark Zuckerberg
No Result
View All Result
Earth-News
No Result
View All Result
Home Science

Siblings rapidly lost their body fat in infancy due to rare, newly described gene mutation

August 1, 2023
in Science
Siblings rapidly lost their body fat in infancy due to rare, newly described gene mutation
Share on FacebookShare on Twitter

conceptual illustration shows close up of a DNA molecule made of blue component pieces; one base pair within the DNA is highlighted in pink, to represent a mutation

Two young children rapidly lost most of their body fat in infancy. The condition was caused by a mutant gene whose specific DNA changes hadn’t been observed before.
(Image credit: ALFRED PASIEKA/SCIENCE PHOTO LIBRARY via Getty Images)

In their first few months of life, two siblings rapidly lost most of their body fat. Now, doctors have found the cause: a DNA mutation never previously linked to their underlying disease.

According to a report of the cases, published July 12 in the journal Frontiers in Endocrinology, the siblings have a previously described condition called congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, after doctors who first described the disorder. The disease has several subtypes that are collectively thought to affect 1 in 10 million people worldwide, according to MedlinePlus, an information service from the U.S. National Library of Medicine. 

People with CGL are either born with nearly no fat or lose most of their fat shortly after birth. Due to how the brain regulates body weight and food intake, this lack of fat often comes with a voracious appetite and cravings for high-fat, high-sugar foods. This was true for the older brother, age 5, and younger sister, age 2, from Romania who were described in the recent report.

To inherit the disorder, children must get one copy of a dysfunctional gene from each parent; the exact gene varies depending on the subtype. Infants with the disorder appear very muscular and veiny due to their general lack of fat and the fact that the little fat they retain tends to build up in their muscles. Fat also builds up in the liver, causing enlargement and eventual damage.

Related: Doctors identify never-before-seen genetic mutations that led to 2 children’s insatiable hunger 

Treatment of CGL varies depending on the subtype and symptoms. People with the disease can survive to adulthood but face a risk of early death, often from complications of diabetes or from liver or heart disease. 

Each kind of CGL comes with a unique genetic cause and associated symptoms, and the siblings were found to have a particularly rare subtype known as type 4. 

“To date, about 30 patients with congenital generalized lipodystrophy type 4 (CGL4) have been described,” the case report authors wrote.

First described in 2009, CGL4 involves a gene found on chromosome 17 that codes for cavin-1, a protein that’s found in cells throughout the body but is particularly important for fat. Cavin-1 helps to form and stabilize small pouches found in cells’ outer membranes; these pouches appear in abundance in fat cells and are key for fat transport, processing and storage.

The inability to store fat inside fat cells leads to the buildup of fat droplets elsewhere in the body, including in the muscles, liver and bloodstream. CGL4 can also cause the heart muscle to thicken, leading to an irregular heartbeat, cardiac arrest and sometimes sudden death. The subtype is also linked to the thickening of the muscle between the stomach and the intestine, which can lead to severe vomiting.

The older sibling was hospitalized for such vomiting and underwent surgery to correct the narrowing of his stomach muscle. The younger sibling experienced cardiac arrest and an irregular heartbeat, both of which were successfully treated. Both siblings showed somewhat high levels of fat in their blood and slightly impaired liver function. 

Fifteen other mutations of the Cavin-1-encoding gene have previously been observed in people with CGL4 and published to the Human Gene Mutation Database, a database of genes involved in inherited human diseases. The newly described mutation likely prevents cells from building a full-size version of Cavin-1, thus making the protein nonfunctional, the case report authors concluded. 

Each sibling carried two copies of this newfound mutation, while each parent carried just one.

“CGL4 in Europe is extremely rare, and only two other cases have been described so far, while the majority of patients come from families of Omani, Japanese, Hispanic, Moroccan, and Turkish origin,” the case report authors noted. “Most patients from these countries, described so far, have identical point mutations, suggesting that they have all the same origin, while in Europe, the genetic etiology [cause] of CGL4 previously reported is more complex due to a variability in patients with different ethnic backgrounds, and the presence of immigrant families [from] different parts of the world.” 

The children’s health continues to be closely monitored as their doctors gather more data on their extremely rare condition.

Stay up to date on the latest science news by signing up for our Essentials newsletter.

Nicoletta Lanese is the health channel editor at Live Science and was previously a news editor and staff writer at the site. She holds a graduate certificate in science communication from UC Santa Cruz and degrees in neuroscience and dance from the University of Florida. Her work has appeared in The Scientist, Science News, the Mercury News, Mongabay and Stanford Medicine Magazine, among other outlets. Based in NYC, she also remains heavily involved in dance and performs in local choreographers’ work.

>>> Read full article>>>
Copyright for syndicated content belongs to the linked Source : Live Science – https://www.livescience.com/health/genetics/siblings-rapidly-lost-their-body-fat-in-infancy-due-to-rare-newly-described-gene-mutation

Tags: rapidlyscienceSiblings
Previous Post

Rare ‘Einstein cross’ warps light from one of the universe’s brightest objects in this stunning image

Next Post

NASA hears ‘heartbeat’ signal from Voyager 2 probe a week after losing contact

Frontdoor Announces Tech Expert Dr. Bala Ganesh as Chief Technology Officer – Business Wire

Frontdoor Appoints Tech Visionary Dr. Bala Ganesh as New Chief Technology Officer

June 25, 2025
City council approves Sports Illustrated Resort – WBRC 6 News

City Council Approves Exciting New Sports Illustrated Resort Project

June 25, 2025
MEPAG Search for Life – Science Analysis Group Science Community Virtual Workshops – astrobiology.com

MEPAG Search for Life – Science Analysis Group Science Community Virtual Workshops – astrobiology.com

June 25, 2025
Volusia County Marine Science Center reopens to the public – Spectrum News 13

Volusia County Marine Science Center Welcomes Visitors Once Again

June 25, 2025

Boss Lifestyle’ Ponzi Scheme Mastermind Admits Guilt in $23 Million Fraud Scandal

June 25, 2025
Exclusive | Stablecoin World Opens Up to Main Street Banks – WSJ

Exclusive | Stablecoin World Opens Up to Main Street Banks – WSJ

June 25, 2025
UK calls China a major challenge but an essential economic partner – AP News

UK Labels China a Major Challenge While Emphasizing Its Role as a Vital Economic Partner

June 25, 2025
George Lopez is coming to Spokane – KXLY.com

George Lopez is coming to Spokane – KXLY.com

June 25, 2025
Neera Tanden defends use of presidential autopen, denies covering up Biden’s health – WSYX

Neera Tanden Defends Use of Presidential Autopen, Rejects Claims of Concealing Biden’s Health Information

June 25, 2025
Blake Farenthold, 63, Congressman Who Quit in Harassment Case, Dies – The New York Times

Former Congressman Blake Farenthold, Who Resigned Amid Harassment Scandal, Dies at 63

June 25, 2025

Categories

Archives

June 2025
MTWTFSS
 1
2345678
9101112131415
16171819202122
23242526272829
30 
« May    
Earth-News.info

The Earth News is an independent English-language daily published Website from all around the World News

Browse by Category

  • Business (20,132)
  • Ecology (698)
  • Economy (716)
  • Entertainment (21,612)
  • General (15,556)
  • Health (9,755)
  • Lifestyle (721)
  • News (22,149)
  • People (718)
  • Politics (723)
  • Science (15,934)
  • Sports (21,213)
  • Technology (15,702)
  • World (696)

Recent News

Frontdoor Announces Tech Expert Dr. Bala Ganesh as Chief Technology Officer – Business Wire

Frontdoor Appoints Tech Visionary Dr. Bala Ganesh as New Chief Technology Officer

June 25, 2025
City council approves Sports Illustrated Resort – WBRC 6 News

City Council Approves Exciting New Sports Illustrated Resort Project

June 25, 2025
  • About
  • Advertise
  • Privacy & Policy
  • Contact

© 2023 earth-news.info

No Result
View All Result

© 2023 earth-news.info

No Result
View All Result

© 2023 earth-news.info

Go to mobile version