Pulmonary Emphysema and Alpha<sub>1</sub>‐Antitrypsin Deficiency

Eriksson, Sten

doi:10.1111/j.0954-6820.1964.tb00567.x

Cited by 427 publications

(90 citation statements)

References 12 publications

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“…7 It is now well established that lack of AT permits uninhibited proteolytic destruction of elastin and other connective tissue constituents of the lung matrix. 2 Cigarette smoking markedly accelerates the rate of development and severity of emphysema in a-1-antitrypsin deficiency, presumably because any residual AT is functionally inactivated by phagocyte-derived active oxygen intermediates.…”

mentioning

confidence: 99%

Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in α-1-antitrypsin deficiency

Perlmutter

2008

Cell Death Differ

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ReviewAutophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in a-1-antitrypsin deficiency DH Perlmutter a-1-Antitrypsin (AT) deficiency is a relatively common autosomal co-dominant disorder, which causes chronic lung and liver disease. A point mutation renders aggregation-prone properties on a hepatic secretory protein in such a way that the mutant protein is retained in the endoplasmic reticulum of hepatocytes rather than secreted into the blood and body fluids where it ordinarily functions as an inhibitor of neutrophil proteases. A loss-of-function mechanism allows neutrophil proteases to degrade the connective tissue matrix of the lung causing chronic emphysema. Accumulation of aggregated mutant AT in the endoplasmic reticulum of hepatocytes causes liver inflammation and carcinogenesis by a gain-of-toxic function mechanism. However, genetic epidemiology studies indicate that many, if not the majority of, affected homozygotes are protected from liver disease by unlinked genetic and/or environmental modifiers. Studies performed over the last several years have demonstrated the importance of autophagy in disposal of mutant, aggregated AT and raise the possibility that predisposition to, or protection from, liver injury and carcinogenesis is determined by the balance of de novo biogenesis of the mutant AT molecule and its autophagic disposal.

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Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in α-1-antitrypsin deficiency

Perlmutter

2008

Cell Death Differ

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“…It was already known that over 90% of the alpha-1 band comprised a single protein that was capable of inhibiting the proteolytic enzyme trypsin (Jacobsson 1955;Schultze, Heide, and Haupt 1962). Following a review of the five patients, three were found to have developed "a degenerative pulmonary disease" at a young age and the condition we now know as AATD was born (Eriksson 1964). Interestingly, the oldest reported case is thought to have been a young girl who had remained undiscovered in the Alaskan permafrost for over 800 years (Zimmerman, Jensen, and Sheehan 2000).…”

Section: History and Clinical Featuresmentioning

confidence: 99%

Alpha-1 Antitrypsin Deficiency – A Genetic Risk Factor for COPD

Carroll¹,

O’Connor²,

Reeves³

et al. 2012

Chronic Obstructive Pulmonary Disease - Current Concepts and Practice

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“…Pulmonary emphysema was described as a complication of AAT deficiency by Eriksson in 1964. 1 In the classic description of AAT deficiency, 23,26 patients have:…”

Section: Pulmonary Emphysemamentioning

confidence: 99%

Liver Disease in Alpha-1 Antitrypsin Deficiency

Miller¹

2015

JLRDT

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Pulmonary Emphysema and Alpha₁‐Antitrypsin Deficiency

Cited by 427 publications

References 12 publications

Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in α-1-antitrypsin deficiency

Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in α-1-antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency – A Genetic Risk Factor for COPD

Liver Disease in Alpha-1 Antitrypsin Deficiency

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Pulmonary Emphysema and Alpha1‐Antitrypsin Deficiency

Cited by 427 publications

References 12 publications

Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in α-1-antitrypsin deficiency

Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in α-1-antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency – A Genetic Risk Factor for COPD

Liver Disease in Alpha-1 Antitrypsin Deficiency

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Pulmonary Emphysema and Alpha₁‐Antitrypsin Deficiency