Leu 318 TC 6 5' shift 6 stop 334 TAA

The mutations shown are not an exhaustive list of variants, but represent the

more common

ones described.

results in progressive lung damage, because elastase has the propensity to destroy the connective tissues of the lung, causing destruction of the normal architecture of air spaces, thus reducing the surface area for gaseous exchange. Indeed, it was this association that led to the identification of AAT deficiency as a genetic disease. The methionine residue in the RCL is susceptible to oxidation, resulting in methionine sulphoxide, and the latter is a poor inhibitor[13] of neutrophil elastase, with a potency of 1/2000 that of the native inhibitor. The oxidation is more likely to occur during inflammation, and this may exacerbate genetic deficiency.

Pulmonary function is well preserved in early adult life in nonsmoking PI ZZ individuals. Pulmonary function declines naturally with age, but this rate of decline is markedly accelerated in PI ZZ individuals. Chronic ob structive pulmonary disease (COPD) in AAT deficiency generally occurs in the age range of 25-40 years, although not all PI ZZ individuals develop COPD. Larsson[14] estimated that smoking shortens median survival by 23 years.

A number of other disease associations have been described, although some of these are controversial. There is a well-recognized association with panniculitis, which responds to AAT replacement therapy. Other associations include arterial aneurysms, pancreatitis, and renal disease.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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