Alpha-1-Antitrypsin Deficiency

AAT deficiency is one of the most common hereditary diseases. It reflects its symptoms with liver disease (elevated liver enzymes, neonatal hepatitis, chronic liver disease, cirrhosis and liver cancer), lung disease (asthma, chronic bronchitis, emphysema, COPD, and bronchiectasis) and skin diseases (panniculitis). α-1-Antitrypsin deficiency , in patients, originates from the mutations in the protease inhibiting gene (Pi) located on chromosome 14. Incidence frequency of this highly risky allele is 1/62.

"The results suggest a helical structure which must be very closely packed containing probably 2, 3 or 4 coaxial nucleic acid chains per helical unit and having the phosphate groups near the outside."

Rosalind Elsie Franklin