Scoliosis, kyphosis, and related back issues
Education on Scoliosis, kyphosis, and related back issues and Alpha-1 Antitrypsin research from the Mark Egly Foundation, with patent claims clearly labeled as hypothesis.
Research hypothesis, not medical advice
The connections described on this page come from Mark Egly's patent filing and ongoing research. They are not established medical facts. Always work with your physician for diagnosis and treatment.
Research hypothesis. The connection between Scoliosis, kyphosis, and related back issues and Alpha-1 Antitrypsin is described in Mark Egly's 2020 patent filing. This is not established medical fact and is not medical advice. Always talk with your doctor about your own health.
What is Scoliosis, kyphosis, and related back issues?
Scoliosis, kyphosis, and related back issues is a health condition discussed in Mark Egly's research on Alpha-1 Antitrypsin. Musculoskeletal conditions affect muscles, bones, and connective tissue.
What Mark Egly's patent discusses
As demonstrated by Morris et al, AATD alleles are associated with joint dislocation and scoliosis in Williams syndrome. Morris et al examined 205 individuals with Williams syndrome for mutations in SERPINA1, the gene that encodes AAT, the inhibitor of elastase. Individuals with classic Williams syndrome deletions and SERPINA1 genotypes PiMS or PiMZ were more likely than those with a SERPINA1 PiMM genotype to have joint dislocation or scoliosis. Due to the link between AATD and Williams syndrome, kyphosis, scoliosis, and other back issues, in one embodiment AAT may be used to treat, control, or prevent Williams syndrome, scoliosis, and other back issues in patients, either with or without known AATD. A diagnosis of Williams syndrome, kyphosis, scoliosis, or another back issue may prompt a medical provider to test a patient for AATD. Alternatively, a patient diagnosed with Williams syndrome, kyphosis, scoliosis, or another back issue may seek genetic testing for AATD through an independent genetic testing company such as 23andMe or geneology.com, a pharmaceutical company supplied test kit or other private methods available. A method for treating a patient suffering from Williams syn…
How this may relate to Alpha-1
Mark Egly's patent proposes that when the body has too little working Alpha-1 Antitrypsin, or when neutrophils release too much neutrophil elastase, inflammation and tissue damage may worsen. For Scoliosis, kyphosis, and related back issues, the patent suggests that testing for AATD or low circulating AAT could help guide care. This is a research hypothesis, not a proven treatment path for everyone with this condition.
What you can do
If you or a family member lives with Scoliosis, kyphosis, and related back issues, consider learning about Alpha-1 Antitrypsin Deficiency and discussing AAT testing with your healthcare team. The Mark Egly Foundation offers education and community support: