The study uncovers genetic causes of APECED beyond the known AIRE gene variant, identifying mutations in non-coding regions that hinder normal AIRE function.
Jennifer Miller emphasizes that the discovery of genetic variance in non-coding regions helps explain the clinical picture for patients without identifiable genetic markers.
The majority of patients studied were of Puerto Rican descent, providing valuable insights for future screenings and understanding genetic predisposition to APECED.
Examining kidney and thymus cells showed that the AIRE mutation significantly alters protein function, which is essential for understanding autoimmune mechanisms in APECED.
Collection
[
|
...
]