What is it about?
Pelizaeus–Merzbacher disease (PMD) is a rare inherited condition that affects the brain and spinal cord by preventing the normal formation of myelin, the protective coating around nerve fibres. Without myelin, nerve signals cannot travel properly, leading to tremors, movement difficulties, and developmental problems. In this study, we identified a genetic disease in English Cocker Spaniel puppies that closely resembles severe PMD in humans. The most affected puppy showed severe tremors, difficulty moving, and poor growth. Examination of the nervous system revealed a near absence of myelin and immature myelin-producing cells that were unable to develop normally. We discovered a previously unknown mutation in the PLP1 gene, which is known to cause PMD in humans. This mutation was predicted to disrupt myelin formation and was not found in other dogs. Female carriers showed only mild and temporary symptoms. This discovery provides an important information that will help researchers better understand PMD and develop potential treatments for this currently incurable disease.
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Why is it important?
This study describes a newly discovered genetic disease in dogs that closely resembles the most severe form of Pelizaeus–Merzbacher disease in humans. We found that the cells responsible for making myelin, the protective coating around nerve fibres, become stuck at an early stage of development and cannot mature properly. As a result, myelin fails to form in the brain and spinal cord, leading to serious neurological problems.
Perspectives
This research highlights the importance of the One Health approach, which recognises the close connection between animal and human health. By identifying a naturally occurring genetic disease in dogs that closely resembles Pelizaeus–Merzbacher disease in humans, we have gained valuable insight into how this condition develops and why myelin fails to form properly in the nervous system. This discovery benefits both species. For affected dogs, identifying the genetic cause improves diagnosis, supports responsible breeding decisions, and may guide future treatment strategies. At the same time, it provides a rare and powerful opportunity to study the disease in a naturally occurring setting, helping researchers better understand the underlying biology and test potential therapies.
Rodrigo Gutierrez Quintana
University of Glasgow
Read the Original
This page is a summary of: A canine
PLP1
missense variant differentiates oligodendrocyte maturation in connatal and classical Pelizaeus–Merzbacher disease, Proceedings of the National Academy of Sciences, February 2026, Proceedings of the National Academy of Sciences,
DOI: 10.1073/pnas.2523008123.
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