Skip to content

Scientists link alcohol-dependence gene to neurotransmitter.

Scientists at The Scripps Research Institute (TSRI) have solved the mystery of why a specific signalling pathway can be associated with alcohol dependence.

This signalling pathway is regulated by a gene, called neurofibromatosis type 1 (Nf1), which TSRI scientists found is linked with excessive drinking in mice. The new research shows Nf1 regulates gamma-aminobutyric acid (GABA), a neurotransmitter that lowers anxiety and increases feelings of relaxation.  This seminal study provides insights into the cellular mechanisms of alcohol dependence.  Importantly, the study also offers a correlation between rodent and human data.

In addition to showing that Nf1 is key to the regulation of the GABA, the research shows that variations in the human version of the Nf1 gene are linked to alcohol-dependence risk and severity in patients.  A better understanding of the molecular processes involved in the transition to alcohol dependence will foster novel strategies for prevention and therapy.

Researchers have long sought a gene or genes that might be responsible for risk and severity of alcohol dependence.  Despite a significant genetic contribution to alcohol dependence, few risk genes have been identified to date, and their mechanisms of action are generally poorly understood.

This research showed that Nf1 is one of those rare risk genes, but the TSRI researchers weren’t sure exactly how Nf1 affected the brain. The TSRI research team suspected that Nf1 might be relevant to alcohol-related GABA activity in an area of the brain called the central amygdala, which is important in decision-making and stress- and addiction-related processes.

As GABA release in the central amygdala has been shown to be critical in the transition from recreational drinking to alcohol dependence, the team summised that Nf1 regulation of GABA release might be relevant to alcohol consumption.

The team tested several behavioural models, including a model in which mice escalate alcohol drinking after repeated withdrawal periods, to study the effects of partially deleting Nf1. In this experiment, which simulated the transition to excessive drinking that is associated with alcohol dependence in humans, they found that mice with functional Nf1 genes steadily increased their ethanol intake starting after just one episode of withdrawal. Conversely, mice with a partially deleted Nf1 gene showed no increase in alcohol consumption.

Investigating further, the researchers found that in mice with partially deleted Nf1 genes, alcohol consumption did not further increase GABA release in the central amygdala. In contrast, in mice with functional Nf1 genes, alcohol consumption resulted in an increase in central amygdala GABA.

In the second part of the study, a collaboration with a distinguished group of geneticists at various U.S. institutions, the team analyzed data on human variations of the Nf1 gene from about 9,000 people. The results showed an association between the gene and alcohol-dependence risk and severity.

The team sees the new findings as pieces to the puzzle.  They believe that future research should focus on exactly how Nf1 regulates the GABA system and how gene expression may be altered during early development.

Source:  The Scripps Research Institute (TSRI)


Chemical synapse with close-up of GABA receptor.  Credit:
Chemical synapse with close-up of GABA receptor. Credit:

Healthinnovations View All

Michelle Petersen is the founder of Healthinnovations, having worked in the health and science industry for over 21 years, which includes tenure within the NHS and Oxford University. Healthinnovations is a publication that has reported on, influenced, and researched current and future innovations in health for the past decade.

Michelle has been picked up as an expert writer for Informa publisher’s Clinical Trials community, as well as being listed as a blog source by the world’s leading medical journals, including the acclaimed Nature-Springer journal series.

Healthinnovations is currently indexed by the trusted Altmetric and PlumX metrics systems, respectively, as a blog source for published research globally. Healthinnovations is also featured in the world-renowned BioPortfolio,, the life science, pharmaceutical and healthcare portal.

Most recently the Texas A&M University covered The Top 10 Healthinnovations series on their site with distinguished Professor Stephen Maren calling the inclusion of himself and his team on the list a reflection of “the hard work and dedication of my students and trainees”.

Michelle Petersen’s copy was used in the highly successful marketing campaign for the mega-hit film ‘Jumanji: The Next Level, starring Jack Black, Karen Gilian, Kevin Hart and Dwayne ‘The Rock’ Johnson. Michelle Petersen’s copywriting was part of the film’s coverage by the Republic TV network. Republic TV is the most-watched English language TV channel in India since its inception in 2017.

An avid campaigner in the fight against child sex abuse and trafficking, Michelle is a passionate humanist striving for a better quality of life for all humans by helping to provide traction for new technologies and techniques within healthcare.

One thought on “Scientists link alcohol-dependence gene to neurotransmitter. Leave a comment

Leave a Reply

Translate »