ALS researchers stunned by unique gene flaws only found in patients from Malta

MSIDA, Malta — Thanks to its breathtaking Mediterranean views and close proximity to the Italian coast, Malta is a big European summer tourist attraction. While Malta may be small, it’s still home to over 500,000 local citizens. Now, a new study focusing on ALS-related gene mutations among the Maltese people has uncovered a unique genetic makeup unlike Europeans living anywhere else.

Study authors from the University of Malta say the “geographically and culturally isolated” local population on the island are an invaluable resource when it comes to genetic research.

Also called Lou Gehrig’s disease or motor neuron disease, amyotrophic lateral sclerosis (ALS) is a degenerative neurological condition which results in the destruction of essential nerves that interact with the body’s muscles. This eventually leads to paralysis and death.

The new study started four years ago when a national ALS Registry and Biobank was set up by the University of Malta. This initiative intended to identify Maltese citizens suffering from the disease. Researchers collected relevant lifestyle, environmental, occupational, and residential information. Each ALS patient also submitted a blood sample, which researchers say will be safely stored in a high-tech facility for quite some time.

Finding a surprising flaw in DNA

The hope is that all this collected data will help scientists better understand why ALS develops in the first place. This study, which is among the first to be conducted using data collected by the Maltese Registry, saw researchers analyze various DNA samples from collected blood in order to identify specific ALS-linked gene flaws.

“The DNA results caught us by surprise. The most frequently mutated ALS genes were flawless in Maltese patients,” says the study’s lead researcher Dr. Ruben J. Cauchi, PhD, a senior lecturer at the University’s School of Medicine, in a release.

The majority of ALS cases seen all over the world are linked to mutations in the following genes: C9orf72, SOD1, TARDBP, and FUS. Surprisingly, ALS patients from Malta showed no mutations across any of these genes.

In comparison to mainland Europeans, more Maltese citizens with no family history of ALS show dangerous flaws in their DNA. Notably, the flaws among the Maltese are occurring in genes that have no previous link to ALS among other European communities.

“Our results underscore the unique genetics of the Maltese population, shaped by centuries of relative isolation. We also established that genetic factors play a significant role in causing ALS in Malta,” Dr. Cauchi adds.

Moving forward, study authors want to get to the bottom of what is triggering ALS among so many Maltese citizens who show no signs of damage to genes typically linked to ALS.

Over time, this awful condition can deprive patients of their ability to move, speak, and even eat. There is currently no cure for ALS.

The study is published in the European Journal of Human Genetics.