Researchers at the Harry Perkins Institute of Medical Research and University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease called oculopharyngodistal myopathy (OPDM).
This disease causes muscle weakness, droopy eyelids, and difficulty swallowing.
What is OPDM?
OPDM is an inherited muscle disease. Until now, genes associated with OPDM had only been identified in Asian populations.
However, Perkins researchers have now found the genetic cause of OPDM in people of European descent.
Their findings were published in the journal Nature Communications.
The researchers, led by Associate Professor Gina Ravenscroft and Emeritus Professor Nigel Laing AO, discovered that a specific mutation in the ABCD3 gene triggers OPDM.
This mutation is an expansion of a repeat sequence, which causes a series of cellular problems that ultimately lead to muscle degeneration.
These repeat expansions have been difficult to detect in the past, but new technologies and computer tools have made it easier to identify them.
“It is so important to study genetic variations across different populations,” said Associate Professor Ravenscroft.
“Discovering that the ABCD3 gene was the cause of OPDM in Europeans adds to our understanding of this disease and opens the door for researchers to explore potential treatments for this and similar muscle diseases.”
Identifying disease-causing genes is incredibly rewarding for researchers and families alike. Many families experience life-changing symptoms and often never find out the cause of their disorder. For some families involved in this study, this discovery has ended a very long search for answers, with DNA samples first received almost 30 years ago.
There are more than 10,000 distinct rare diseases, and 70% of them start in childhood. Most of these diseases have a genetic origin.
Families often rely on medical researchers to find the genetic cause of their condition, which can feel like searching for a needle in a haystack.
“Rare diseases affect around 1 in 10 people, and these families can go a lifetime without answers,” said Associate Professor Ravenscroft.
“By finding the genetic cause, we can give families a better understanding of the disease progression, their likelihood of passing it on, and importantly, it offers the possibility of finding new treatments or cures one day.”
This groundbreaking discovery not only helps families affected by OPDM but also contributes to the broader understanding of genetic diseases.
The identification of the ABCD3 gene mutation in Europeans highlights the importance of studying genetic variations across different populations and brings hope for future treatments and cures for rare muscle diseases.
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