May 6, 2026
“The divers (breath-holding) mutation”
PDE10A or CX26 mutation.
Abstract
The post argues that the “divers” or “breath-holding” mutation, commonly associated with the free-diving Bajau people, is often overstated as a beneficial evolutionary adaptation. According to the article, the proposed advantages, such as increased breath-holding ability and improved underwater endurance, remain largely anecdotal and difficult to verify consistently in carriers. The mutations discussed, primarily PDE10A and CX26, are instead more strongly associated with harmful neurological and physiological effects than with any clear survival advantage. The author notes that these mutations are linked to hearing loss, sleep apnea, breathing problems, increased carbon dioxide sensitivity, and serious disorders involving movement, cognition, and memory.
The article further explains that PDE10A mutations are associated with damage to important brain regions, including the substantia nigra and dopaminergic pathways, which are tied to conditions such as Parkinson’s Disease, Huntington’s Disease, dyskinesia, tremors, rigidity, and developmental neurological disorders. The CX26 mutation is additionally associated with KIDS Syndrome and deafness. The author concludes that while the mutation sequence itself may be real and measurable, the alleged evolutionary “benefit” of enhanced diving ability is speculative and rare, whereas the harmful inherited side effects are much more clearly documented and significant.
The Good
Increased breath-holding ability supposedly allowed those with the mutation to become more adept at diving by staying underwater longer. The modification may enable carriers to hold their breath for extended periods compared to the average person. This mutation has been found most commonly among the free-diving Bajau people.-1
The Science
Diseases associated with PDE10A include Dyskinesia (involuntary, erratic, twisting movements of the face, arms, legs, or trunk), Limb and Orofacial Infantile-Onset, and Striatal Degeneration, a neurologic disorder characterized by delayed motor development, as an autosomal dominant disorder (a pattern of inheritance seen in some genetic diseases such as Marfan Syndrome).-4 Ultimately, this mutation negatively affects the “…region of the brain that contributes to controlling movement and cognition.” Degradations associated with the CX26 mutation include KIDS Syndrome and deafness. Also, it can cause sleep apnea, breathing problems, and increased sensitivity to carbon dioxide.-5
PDE10A is (an) “autosomal dominant disorders, (and)only one allele of a mutated gene is necessary for disease.” Mechanisms and Morphology of Cellular Injury, Adaptation, and Death; Margaret A. Miller, James F. Zachary, in Pathologic Basis of Veterinary Disease (Sixth Edition), 2017
We found that PDE10A and ADCY5 mutations were associated with decreased PDE10A expression in the striatum and globus pallidus (brain matter), decreased dopamine transporter expression…loss of substantia nigra neuromelanin-containing neurons, and microstructural white and gray matter changes…”-2
Effects are anecdotal
The mutated sequence associated with increased oxygen saturation rates has been identified and lab-verified; however, this mutation’s proclaimed benefits are rare, if they exist at all. Conclusions remain anecdotal, as identifying carriers who also possess the proposed benefit of prolonged breath-holding has been elusive. Carriers and their offspring are often plagued with many dangerous side effects, including harmful effects to the brain regions that control movement, cognition, and memory. The mutation can cause many adverse inherited effects, including disease, deafness, and neurological disorders. Conditions associated with it include Huntington’s Disease, KIDS Syndrome, Infantile-Onset disorders, and Striatal Degeneration. Ironically, the mutation may also be directly associated with breathing problems, including sleep apnea and increased sensitivity to carbon dioxide.
2 https://movementdisorders.onlinelibrary.wiley.com/doi/abs/10.1002/mds.27523
3 https://www.sciencedirect.com/topics/medicine-and-dentistry/substantia-nigra
4- https://www.sciencedirect.com/topics/medicine-and-dentistry/autosomal-dominant-disorder
5- https://www.newswise.com/articles/genetic-mutation-may-hold-answers-to-controlled-breathing;
