We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us

Download Mobile App




Single Mutation Linked to Fatty Disorders of Liver and Skin

By LabMedica International staff writers
Posted on 05 Aug 2019
The common liver disorder non-alcoholic fatty liver disease (NAFLD) has been found to share a genetic linkage with Chanarin-Dorfman syndrome, a rare skin condition.

NAFLD, which affects more than one-third of the world’s population, is characterized by excessive fat build-up in the liver due to causes other than alcohol use. More...
There are two types of NAFLD: non-alcoholic fatty liver (NAFL) and non-alcoholic steatohepatitis (NASH). Non-alcoholic fatty liver usually does not progress to liver damage or NASH. NASH includes both a fatty liver and liver inflammation. It may lead to complications such as cirrhosis, liver cancer, liver failure, or cardiovascular disease. NAFLD displays a strong genetic component, and inherited forms of have been suspected. However, the molecular mechanisms of hereditary NAFLD have not been described.

Investigators at Thomas Jefferson University (Philadelphia, PA, USA) identified a gene, that when mutated, causes NAFLD. This finding was made while the investigators were studying Chanarin-Dorfman syndrome, a severe but rare skin disorder, in several families from Iran. Sufferers of Chanarin-Dorfman syndrome develop dry, reddish, and scaly skin shortly after birth and later on in life acquire abnormally large and fatty livers.

The investigator performed whole-exome or targeted next-generation sequencing on patients from six families who demonstrated autosomal dominant NAFLD. From their results, the investigators described a heritable form of NAFLD and/or dyslipidemia due to monoallelic ABHD5 (abhydrolase domain containing 5) mutations, with complete clinical expression after the fourth decade of life. Mutations in the ABHD5 gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation.

The results obtained during the present study came from seven unrelated multiplex families encompassing 39 affected individuals. The prevalence of ABHD5-associated NAFLD was estimated to be one in 1,137 individuals in a normal population.

“Studying a rare, heritable disease such as Chanarin-Dorfman syndrome, can be very helpful in identifying conditions which are much more prevalent, like in the case of non-alcoholic fatty liver disease,” said senior author Dr. Jouni Uitto, professor of dermatology and cutaneous biology at Thomas Jefferson University. “It turns out that if you have one mutated copy of the ABHD5 gene you get the liver disease only, but if you have mutations in both copies then you get the liver disease plus Chanarin-Dorfman syndrome.”

“The link between non-alcoholic fatty liver disease and scaly skin diseases such as Chanarin-Dorfman syndrome highlights the importance of regulated lipid metabolism in skin physiology,” said Dr. Uitto. “In fact, there are several heritable disorders manifesting with dry and scaly skin associated with mutations in genes like ABHD5 that are involved in lipid metabolism. Identification of such genes and specific mutations now form the basis for ongoing studies attempting to develop treatment for these often devastating skin disorders.”

The study was published in the August 2019 issue of the Journal of Hepatology.

Related Links:
Thomas Jefferson University


Gold Member
Hematology Analyzer
Medonic M32B
Portable Electronic Pipette
Mini 96
Laboratory Software
ArtelWare
New
Gold Member
Collection and Transport System
PurSafe Plus®
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Molecular Diagnostics

view channel
Image: LungCanSeek demonstrated an overall sensitivity of 83.5% and specificity of 90.3% in detecting lung cancer (Photo courtesy of AdobeStock)

New Blood Test Offers Affordable and Accurate Early Detection of Lung Cancer

Lung cancer remains the leading cause of cancer-related deaths worldwide, largely because most cases are diagnosed at advanced stages when treatment options are limited. Early detection significantly improves... Read more

Hematology

view channel
Image: New evidence shows viscoelastic testing can improve assessment of blood clotting during postpartum hemorrhage (Photo courtesy of 123RF)

Viscoelastic Testing Could Improve Treatment of Maternal Hemorrhage

Postpartum hemorrhage, severe bleeding after childbirth, remains one of the leading causes of maternal mortality worldwide, yet many of these deaths are preventable. Standard care can be hindered by delays... Read more

Immunology

view channel
Image: The TriVerity IVD test includes the TriVerity cartridge and the Myrna instrument (Photo courtesy of Inflammatix)

Blood-Based Immune Cell Signatures Could Guide Treatment Decisions for Critically Ill Patients

When a patient enters the emergency department in critical condition, clinicians must rapidly decide whether the patient has an infection, whether it is bacterial or viral, and whether immediate treatment... Read more

Industry

view channel
Image: The collaboration supports clinical validation and regulatory submissions of the new T1D 4-plex assay on Revvity’s GSP instrument (Photo courtesy of Revvity)

Revvity and Sanofi Collaborate on Program to Revolutionize Early Detection of Type 1 Diabetes

Type 1 diabetes (T1D) is a lifelong autoimmune condition in which the immune system destroys the pancreas’s insulin-producing beta cells, leading to dependence on insulin therapy. Early detection is critical... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.