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At least 163 records · Page 9Linked to original sources
PubMed1984

Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects.

We studied 143 Pi MZ heterozygous (MZ) subjects from random populations that had been examined previously for alpha 1-antitrypsin phenotype. Each Pi MZ subject was closely matched with a Pi M control subject from the same population at each of 6 centers. An expanded National Heart, Lung and Blood Institute (NHLBI) respiratory symptom questionnaire was completed by each subject. Pulmonary function tests designed to detect established as well as early obstructive airway abnormalities were administered. Multivariate analysis of the variance of data from the questionnaire and pulmonary function tests corrected for age, race, sex, and smoking history showed no significant difference (p less than 0.05) between subjects of Pi MZ and Pi M phenotype. The size of the populations studied and number of observations made for each variable were sufficient to assure that small differences could be detected with 95% power. We conclude that MZ phenotype alone carries no greater risk of developing lung disease than M phenotype.

Adult↗
PubMed2002

Mode of action of RNA/DNA oligonucleotides: progress in the development of gene repair as a therapy for alpha(1)-antitrypsin deficiency.

We describe a technology developed for the site-specific correction of a single base carried on an episome or chromosome in prokaryotic and eukaryotic cells. Critical to the development of this technology as a therapeutic device for treating genetic disorders, like alpha(1)-antitrypsin deficiency, is the establishment of a standardized assay to study its mode of action and structure-activity relationships (SARs). To this end, a positive-selection system in Escherichia coli has been developed to assess RNA/DNA oligonucleotide (RDO)-directed repair activity. We demonstrate that RDO-directed repair requires the concerted action of the two following repair proteins: the pairing protein RecA; and the mismatch recognition protein, MutS. SAR studies demonstrate that the RDO molecule is functionally asymmetric. The RNA-containing strand enables strand-pairing and stabilization of the molecule, and the DNA-containing strand confers the information transfer.

Adenosine Triphosphatases↗
PubMed1975

[Alpha 1 antitrypsin deficiency. Physiopathological consequences].

Alpha-1-antitrypsine, a glycoprotein synthesized in the liver, exists in different phenotypic variants. The Z allele, when heterozygotic, causes a diminution of protein in the blood; when homozygotic it causes an almost complete absence of blood protein. It appears that in instances of deficiency the hepatocyte is unable to secrete the protein it synthesizes, and this leads to intracellular accumulation of protein (visible on histological examination as granules of amorphic P.A.S.-positive material). The deficiency is accompanied by pulmonary manifestations of the destructive emphysematic type. The lesions are probably related to the absence of anti-protease activity in the lung tissues: proteolysis of the lung in animals reproduces the lesions observed in man. Studies on large populations have shown that, in people exhibiting a total or intermediate deficiency in alpha-1-antitrypsine, cigarette smoking represents a significant risk factor in that it increases the probability of parenchylmal destruction.

Bronchi↗
PubMed1975

[Obstructive pulmonary syndromes in children with alpha 1 antitrypsin deficiency. 3 cases].

During the last six years, the search for a deficiency in alpha-1-antitrypsin (AAT) was carried out in 106 children aged from 5 months to 14 years, having the obstructive pulmonary syndrome. Nine deficiencies were in this manner detected and phenotyped. These are the observations of three of these children which are reported here. Their age ranged between 4 years and a half for two of them and 8 years for the third one, having asthma. The phenotypes are respectively SS, MZ, and ZZ. Following these observations, the problems brought up by the association in AAT deficiency and the obstructive pulmonary syndrome in children are discussed: clinical symptomatology, interpretation of the basic design, pathogenic signification and possible connections with asthma and therapeutic influence. The functional respiratory disorders noted in these children involved a ventilatory asychronism, an overexpansion, and regional abnormalities of ventilation and perfusion. To answer these still outstanding questions, the need for a systematic prospective study carried out on a wide group of children is emphasized.

Adolescent↗
PubMed1975

Further examples confirming the existence of Pi null (Pi-).

The existence of the Pi- allele (Pi null) was envisaged by Talamo when he discovered a subject whose serum contained no alpha-1-antitrypsin. We were able to demonstrate that a single dose of this allele exists in three families which we studied. In a fourth family, the propositus carried this allele in duplicate (phenotype Pi- -), which agrees with the results of the quantitative analyses carried out on the parents. The importance of the Pi- allele is envisaged and the necessity of the genetic survey is generally essential to demonstrate its existence.

Alleles↗
PubMed2004

[klotho gene].

The klotho gene, originally identified by insertional mutagenesis in mice, suppresses multiple aging phenotypes(e.g. arteriosclerosis, pulmonary emphysema, osteoporosis, infertility, short lifespan). We have shown that mice deficient for the klotho gene show endothelial dysfunction as manifested by an attenuated response of aortic relaxation in response to acetylcholine stimulation. Nitric oxide production was also significantly reduced in klotho deficient mice. A decrease in klotho gene expression in animals under sustained circulatory and metabolic stress(e.g. atherosclerosis). The klotho gene delivery improves endothelial dysfunction through a pathway involving nitric oxide, and is involved in modulating vascular function(e.g. hypertension, vascular remodeling). Our findings establish the basis for the therapeutic potential of klotho gene delivery in atherosclerotic disease.

Animals↗