SERUM LEVELS OF ALPHA-1 ANTITRYPSIN (α1AT) PREDICT PHENOTYPIC EXPRESSION OF THE α1AT GENE

Aim Deficiency of Alpha-1-antitrypsin (AAT) can be a genetic condition that increases the risk of developing liver, lung and possibly gastrointestinal disease. Since many autistic children also have gastrointestinal disorders, this study was designed to measure serum concentration of AAT and establish AAT genotypes in autistic children, age and gender matched non-autistic siblings, parents and controls. Subjects and Methods We used an indirect ELISA with monoclonal IgG to AAT to measure AAT serum concentrations in 71 members from 16 families of individuals with autism and 18 controls (no family history of autism). We used a duplex polymerase chain reaction to detect M, S and Z alleles for alpha-1 antitrypsin expression in 52 members of 12 of the above families. Results A significantly high number of autistic family members had lower than normal serum levels of AAT when compared to controls. Autistic children with regressive onset had significantly lower levels of AAT compared to controls, and a significant number of autistic children with low serum AAT also had hyperbilirubinemia, gastrointestinal disease and respiratory problems. We also found that a significantly high number of these individuals had the PiMZ genotype and correspondingly low levels of serum alpha-1 antitrypsin. Discussion Knowing that low levels of alpha-1 antitrypsin may be inherited, and that low levels of AAT may be associated with GI disease in autistic children, genotyping autistic children may help identify individuals susceptible to developing digestive problems.

Download Full-text

Alpha 1 antitrypsin serum levels and phenotypes in patients with retinal vasculitis.

British Journal of Ophthalmology ◽

10.1136/bjo.69.7.497 ◽

1985 ◽

Vol 69 (7) ◽

pp. 497-499 ◽

Cited By ~ 4

Author(s):

D Wakefield ◽

J Easter ◽

S N Breit ◽

P Clark ◽

R Penny

Keyword(s):

Retinal Vasculitis ◽

Serum Levels ◽

Alpha 1 Antitrypsin

Download Full-text

Serum Levels of Glutamate-Pyruvate Transaminase, Glutamate-Oxaloacetate Transaminase and Gamma-Glutamyl Transferase in 1494 Patients with Various Genotypes for the Alpha-1 Antitrypsin Gene

Journal of Clinical Medicine ◽

10.3390/jcm9123923 ◽

2020 ◽

Vol 9 (12) ◽

pp. 3923

Author(s):

José María Hernández Pérez ◽

Ignacio Blanco ◽

Agustín Jesús Sánchez Medina ◽

Laura Díaz Hernández ◽

José Antonio Pérez Pérez

Keyword(s):

Liver Damage ◽

Serum Levels ◽

Gamma Glutamyl Transferase ◽

Glutamate Oxaloacetate Transaminase ◽

Glutamate Pyruvate Transaminase ◽

Gamma Glutamyl ◽

Glutamate Pyruvate ◽

Alpha 1 Antitrypsin ◽

Glutamyl Transferase ◽

Normal Genotype

Background: Patients with liver disease associated with alpha-1 antitrypsin deficiency (AATD) are homozygous for the Z mutation, leading to chronic liver damage. Objective: To assess the serum levels of glutamate-oxaloacetate transaminase (GOT), glutamate-pyruvate transaminase (GPT), and gamma-glutamyl transpeptidase (GGT) in patients with different genotypes for the alpha-1 antitrypsin (AAT) gene. Methods: Patients (n = 1494) underwent genotyping of the SERPINA1 gene, together with a determination of AAT and GOT and GPT and GGT transaminase levels. Patients with a deficient allele (n = 476) and with a normal genotype were compared. Results: A statistically significant association was found between deficient genotypes and GOT (p < 0.0003), GPT (p < 0.002), and GGT (p < 0.006). Comparing GOT levels in patients with PI*Z deficient variant versus those with normal genotype, an odds ratio (OR) of 2.72 (CI: 1.5–4.87) (p < 0.0005) was obtained. This finding was replicated with the PI*Z allele and the GPT values (OR = 2.31; CI: 1.45–3.67; p < 0.0003). In addition, a statistically significant association was found between liver enzymes and AAT values. Conclusion: The PI*Z allele seemed to be a risk factor for the development of liver damage. AAT deficient genotypes were associated with GOT, GPT, and GGT altered values. Low AAT levels were associated with high GPT and GGT levels.

Download Full-text

ROC Analysis of Diagnostic Performance Utilizing Serum Antiproteases in Cancer Patients

The International Journal of Biological Markers ◽

10.1177/172460088800300310 ◽

1988 ◽

Vol 3 (3) ◽

pp. 203-205 ◽

Cited By ~ 1

Author(s):

J. Millán ◽

A. Lorenzo ◽

P. Gallurt ◽

P. Rodriguez ◽

J. Romero ◽

...

Keyword(s):

Cancer Patients ◽

Diagnostic Performance ◽

Roc Analysis ◽

Diagnostic Procedures ◽

Serum Levels ◽

Receiver Operating Characteristics ◽

True Positive ◽

Operating Characteristics ◽

Normal Individuals ◽

Alpha 1 Antitrypsin

Assessment of the accuracy of diagnostic procedures is made independent of diagnostic criteria by means of a receiver-operating-characteristics (ROC) curve. We performed ROC analysis for the major serum antiproteases: alpha-1-antitrypsin (A1AT) and alpha-2-macroglobulin (A2M), in 99 cancer patients compared with 71 normal individuals. A1AT and A2M were significantly higher in cancer patients (p < 0.0005). By comparing true positive and false positive rates for different serum levels, ROC analysis showed that serum A1AT quantification seems more useful in clinical practice than serum A2M.

Download Full-text

P2.01-079 The Serum Levels of Alpha-1 Antitrypsin Are Strongly Associated with Its Local Production by Tumor Cells in NSCLC Patients

Journal of Thoracic Oncology ◽

10.1016/j.jtho.2016.11.1131 ◽

2017 ◽

Vol 12 (1) ◽

pp. S835-S836

Author(s):

Adam Szpechcinski ◽

Renata Langfort ◽

Emilia Debek ◽

Dorota Giedronowicz ◽

Mateusz Florczuk ◽

...

Keyword(s):

Tumor Cells ◽

Serum Levels ◽

Local Production ◽

Alpha 1 Antitrypsin ◽

Nsclc Patients

Download Full-text

Hepatoid carcinoma of the ovary: immunohistochemical finding of one case and literature review

International Journal of Gynecological Cancer ◽

10.1136/ijgc-00009577-200605000-00075 ◽

2006 ◽

Vol 16 (3) ◽

pp. 1439-1441 ◽

Cited By ~ 4

Author(s):

S. YİĞİT ◽

M. A. Uyaroğlu ◽

Z. Kuş ◽

N. Ekinci ◽

Ö ÖZTEKİN

Keyword(s):

Lower Abdominal Pain ◽

Serum Levels ◽

High Serum ◽

Postmenopausal Bleeding ◽

Ovarian Mass ◽

Hepatoid Carcinoma ◽

Pathologic Features ◽

Alpha 1 Antitrypsin ◽

Carcinoma Of The Ovary ◽

Immunohistochemical Finding

Hepatoid carcinoma is a rare ovarian tumor and is thought to be a histopathologic subtype different from hepatoid type yolk sac tumor based on its pathologic features. A 63-year-old woman who had postmenopausal bleeding and lower abdominal pain was found to have right ovarian mass on pelvic examination and computed tomography. She had high serum levels of alpha fetoprotein (AFP) and CA125. Histologically, the tumor resembled hepatocellular carcinoma by architectural and cytologic features. Immunohistochemically tumor cells were immunoreactive for AFP, alpha 1 antitrypsin, and carcinoembryonic antigens.

Download Full-text