P2RX6 – Myopathy

In a single patient presenting with weakness and fatigue, electromyography showed primary muscular damage consistent with early-stage myopathy. Whole exome sequencing identified a novel homozygous deletion in P2RX6 predicted to disrupt the ATP-gated ion channel receptor function, implicating P2RX6 in autosomal recessive myopathy (PMID:38392191). P2RX6 is predominantly expressed in skeletal muscle and belongs to the purinergic P2RX family, mediating transmembrane ionic flow essential for muscle excitability. In silico STRING pathway analysis revealed interactions between P2RX6 and proteins with established roles in muscle function, supporting a potential pathogenic mechanism. No additional unrelated cases, segregation data, or in vitro functional assays have been reported to date. As the sole evidence derives from this single case and computational data, the association remains limited. Key take-home: while P2RX6 loss-of-function may underlie a novel recessive myopathy, further studies are required to confirm diagnostic utility.

References

• Current issues in molecular biology • 2024 • Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy. PMID:38392191

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