Work

Perturbation of the transforming growth factor β system in Turner syndrome.

Year: 2012

Type: article

Abstract: OBJECTIVE: To measure components of the circulating transforming growth factor β (TGFβ) system in patients with Turner syndrome (TS) compared to relevant controls and to ascertain correlation with endocrine and cardiovascular parameters. METHODS: TGFβ1, TGFβ2 and endoglin (a vascular TGF receptor component) were measured using enzyme-linked immunoassays in the sera of 40 subjects with TS and 40 healthy volunteer women. The cardiovascular phenotype in TS subjects was extensively characterized by cardiac magnetic resonance (MR) and echo. RESULTS: TGFβ1 levels were about 3-fold higher in TS while TGFβ2 levels were about 3.5-fold higher in controls (P<0.000 1 for both). Soluble endoglin levels were 25% higher in TS (P<0.000 1). Variation in TGFβ system components was not explained by age, blood pressure, platelet count, thyroid function, body proportions or cardiovascular phenotype. CONCLUSION: There is profound perturbation of the TGFβ system evident in the circulation of individuals with TS.

Source: PubMed

Authors: Jian Zhou, Sruthi Arepalli, Clara M Cheng, Vladimir K Bakalov, Carolyn A Bondy

Institutions: National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: Gender-specific effects in physiology, pathophyiology and longevity