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269 results on '"Hendig, Doris"'

22. Statins as a therapeutic approach for the treatment of pseudoxanthoma elasticum patients

Author

Tiemann, Janina (Dr. rer. nat.), Lindenkamp, Christopher (M. Sc.), Plümers, Ricarda (M.Sc.), Faust, Isabel (Dr. rer. nat.), Knabbe, Cornelius (Prof. Dr. med.), and Hendig, Doris (Dr. rer. nat.)

Subjects
nutritional and metabolic diseases
Abstract

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by mutations in the \(\textit {ATP-binding cassette sub-family C member 6}\) gene. Our previous studies revealed that PXE might be associated with premature aging. Treatment with statins showed positive effects not only for PXE but also for other diseases associated with premature aging like Hutchinson–Gilford progeria syndrome. Nevertheless, the molecular mechanisms in the case of PXE remain unclear. Thus, this study was performed to evaluate the efficiency of atorvastatin by analyzing key characteristics of the PXE phenotype in primary human dermal fibroblasts of PXE patients. Our data indicate that an atorvastatin treatment has a positive effect, especially on factors associated with cholesterol biosynthesis and prenylation processes, whereas the effect on age- and calcification-related factors was less pronounced.

Published
2021

30. Restrictive cardiomyopathy is caused by a novel homozygous desmin \(\it (DES)\) mutation p.Y122H leading to a severe filament assembly defect

Author

Brodehl, Andreas, Pour Hakimi, Seyed Ahmad, Stanasiuk, Caroline (B. Sc.), Ratnavadivel, Sandra, Hendig, Doris (Dr. rer. nat.), Gärtner-Rommel, Anna (Dr. rer. nat.), Gerull, Brenda, Gummert, Jan (Prof. Dr. med.), Paluszkiewicz, Lech, and Milting, Hendrik (Prof. Dr. rer. nat.)

Subjects
macromolecular substances, ddc:610
Abstract

Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block. Genetic analysis revealed a novel homozygous missense mutation in the \(\it DES\) gene (c.364T > C; p.Y122H), which is absent in human population databases. The mutation is localized in the highly conserved coil-1 desmin subdomain. In silico, prediction tools indicate a deleterious effect of the desmin \(\it DES\) mutation p.Y122H. Consequently, we generated an expression plasmid encoding the mutant and wildtype desmin formed, and analyzed the filament formation in vitro in cardiomyocytes derived from induced pluripotent stem cells and HT-1080 cells. Confocal microscopy revealed a severe filament assembly defect of mutant desmin supporting the pathogenicity of the \(\it DES\) mutation, p.Y122H, whereas the wildtype desmin formed regular intermediate filaments. According to the guidelines of the American College of Medical Genetics and Genomics, we classified this mutation, therefore, as a novel pathogenic mutation. Our report could point to a recessive inheritance of the \(\it DES\) mutation, p.Y122H, which is important for the genetic counseling of similar families with restrictive cardiomyopathy caused by \(\it DES\) mutations.

Published
2019

41. Acute Retinopathy in Pseudoxanthoma Elasticum

Author

Gliem, Martin, primary, Birtel, Johannes, additional, Müller, Philipp L., additional, Hendig, Doris, additional, Faust, Isabel, additional, Herrmann, Philipp, additional, Holz, Frank G., additional, Adamus, Grazyna, additional, and Charbel Issa, Peter, additional

Published
2019
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43. Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues 11 Medical and Health Sciences 1103 Clinical Sciences

Author

Ibold, Bettina, Faust, Isabel, Tiemann, Janina, Gorgels, Theo G. M. F., Bergen, Arthur A. B., Knabbe, Cornelius, Hendig, Doris, Human Genetics, ANS - Complex Trait Genetics, and ARD - Amsterdam Reproduction and Development

Subjects
Mice, lipids (amino acids, peptides, and proteins), ATP-binding cassette transporters, Gene expression, Abcc6, Pseudoxanthoma elasticum
Abstract

Background: ATP-binding cassette (ABC) transporters are involved in a huge range of physiological processes. Mutations in the ABCC6 gene cause pseudoxanthoma elasticum, a metabolic disease with progressive soft tissue calcification. Methods: The aim of the present study was to analyze gene expression levels of selected ABC transporters associated with cholesterol homeostasis in metabolic active tissues, such as the liver, kidney and white adipose tissue (WAT) of Abcc6 -/- mice from an early and late disease stage (six-month-old and 12-month-old mice). Results: The strongest regulation of ABC transporter genes was observed in the liver tissue of six-month-old Abcc6 -/- mice. Here, we found a significant increase of mRNA expression levels of phospholipid, bile salt and cholesterol/sterol transporters Abcb1b, Abcb11, Abcg1, Abcg5 and Abcg8. Abcd2 mRNA expression was increased by 3.2-fold in the liver tissue. We observed strong upregulation of Abca3 and Abca1 mRNA expression up to 3.3-fold in kidney and WAT, and a 2-fold increase of Abca9 mRNA in the WAT of six-month-old Abcc6 knockout mice. Gene expression levels of Abcb1b and Abcg1 remained increased in the liver tissue after an age-related disease progression, while we observed lower mRNA expression of Abca3 and Abca9 in the kidney and WAT of 12-month-old Abcc6 -/- mice. Conclusions: These data support previous findings that Abcc6 deficiency leads to an altered gene expression of other ABC transporters depending on the status of disease progression. The increased expression of fatty acid, bile salt and cholesterol/sterol transporters may be linked to an altered cholesterol and lipoprotein metabolism due to a loss of Abcc6 function.

Published
2019

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