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Article ; Online: Population-Based Biobanking.

Lieb, Wolfgang / Strathmann, Eike A / Röder, Christian / Jacobs, Gunnar / Gaede, Karoline I / Richter, Gesine / Illig, Thomas / Krawczak, Michael

Genes

2024 Volume 15, Issue 1

Abstract: Population-based biobanking is an essential element of medical research that has grown substantially over the last two decades, and many countries are currently pursuing large national biobanking initiatives. The rise of individual biobanks is paralleled ...

Abstract	Population-based biobanking is an essential element of medical research that has grown substantially over the last two decades, and many countries are currently pursuing large national biobanking initiatives. The rise of individual biobanks is paralleled by various networking activities in the field at both the national and international level, such as BBMRI-ERIC in the EU. A significant contribution to population-based biobanking comes from large cohort studies and national repositories, including the United Kingdom Biobank (UKBB), the CONSTANCES project in France, the German National Cohort (NAKO), LifeLines in the Netherlands, FinnGen in Finland, and the All of Us project in the U.S. At the same time, hospital-based biobanking has also gained importance in medical research. We describe some of the scientific questions that can be addressed particularly well by the use of population-based biobanks, including the discovery and calibration of biomarkers and the identification of molecular correlates of health parameters and disease states. Despite the tremendous progress made so far, some major challenges to population-based biobanking still remain, including the need to develop strategies for the long-term sustainability of biobanks, the handling of incidental findings, and the linkage of sample-related and sample-derived data to other relevant resources.
MeSH term(s)	Humans ; Biological Specimen Banks ; Population Health ; Biomedical Research ; Calibration ; Finland
Language	English
Publishing date	2024-01-03
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15010066
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Article ; Online: Association of Plasma Zinc and Copper with Body Composition, Lipids and Inflammation in a Cross-Sectional General Population Sample from Germany.

Övermöhle, Cara / Rimbach, Gerald / Waniek, Sabina / Strathmann, Eike A / Liedtke, Tatjana / Stürmer, Paula / Both, Marcus / Weber, Katharina S / Lieb, Wolfgang

Nutrients

2023 Volume 15, Issue 20

Abstract: We aimed to relate circulating plasma zinc and copper to a broad spectrum of adiposity-related traits in a cross-sectional Northern German study (n = 841, 42% female, age: 61 ± 12 years). Zinc and copper were measured by inductively coupled plasma-mass ... ...

Abstract	We aimed to relate circulating plasma zinc and copper to a broad spectrum of adiposity-related traits in a cross-sectional Northern German study (n = 841, 42% female, age: 61 ± 12 years). Zinc and copper were measured by inductively coupled plasma-mass spectrometry. Subcutaneous (SAT) and visceral (VAT) adipose tissue and liver fat were derived from 534 and 538 participants, respectively, via magnet resonance imaging. Associations were assessed using multivariable-adjusted linear regression analysis. An increase per one standard deviation (SD) in zinc was associated with direct linear increases in body mass index (BMI) (1.17%; 95% confidence interval (95%CI) 0.15-2.20%), waist circumference (0.85%; 95%CI 0.04-1.67%) and waist-to-hip ratio (0.64%; 95%CI 0.18-1.09%). A 1-SD increment in copper was directly associated with BMI (1.64%; 0.41-2.88%) and waist circumference (1.22%; 95%CI 0.25-2.20%) but not waist-to-hip ratio. Independent of fat intake, zinc displayed associations with VAT (5.73%; 95%CI 2.04-9.56%) and with liver fat (3.84%; 95%CI 1.49-6.25%), the latter association being also independent of BMI. Copper was directly associated with SAT (4.64%; 95%CI 0.31-9.15%) before accounting for BMI, but showed no association with VAT or liver fat. Observed associations suggest a possible relevance of zinc and copper to adiposity. Particularly zinc displayed associations with traits of abdominal adiposity and liver fat.
MeSH term(s)	Humans ; Female ; Middle Aged ; Aged ; Male ; Copper/metabolism ; Cross-Sectional Studies ; Zinc/metabolism ; Intra-Abdominal Fat/metabolism ; Obesity/metabolism ; Adiposity ; Inflammation/metabolism ; Body Composition ; Body Mass Index ; Waist Circumference ; Lipids
Chemical Substances	Copper (789U1901C5) ; Zinc (J41CSQ7QDS) ; Lipids
Language	English
Publishing date	2023-10-20
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15204460
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Article ; Online: Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.

Strathmann, Eike A / Hölker, Irmgard / Tschernoster, Nikolai / Hosseinibarkooie, Seyyedmohsen / Come, Julien / Martinat, Cecile / Altmüller, Janine / Wirth, Brunhilde

American journal of human genetics

2023 Volume 110, Issue 3, Page(s) 442–459

Abstract: Dysregulated Plastin 3 (PLS3) levels associate with a wide range of skeletal and neuromuscular disorders and the most common types of solid and hematopoietic cancer. Most importantly, PLS3 overexpression protects against spinal muscular atrophy. Despite ... ...

Abstract	Dysregulated Plastin 3 (PLS3) levels associate with a wide range of skeletal and neuromuscular disorders and the most common types of solid and hematopoietic cancer. Most importantly, PLS3 overexpression protects against spinal muscular atrophy. Despite its crucial role in F-actin dynamics in healthy cells and its involvement in many diseases, the mechanisms that regulate PLS3 expression are unknown. Interestingly, PLS3 is an X-linked gene and all asymptomatic SMN1-deleted individuals in SMA-discordant families who exhibit PLS3 upregulation are female, suggesting that PLS3 may escape X chromosome inactivation. To elucidate mechanisms contributing to PLS3 regulation, we performed a multi-omics analysis in two SMA-discordant families using lymphoblastoid cell lines and iPSC-derived spinal motor neurons originated from fibroblasts. We show that PLS3 tissue-specifically escapes X-inactivation. PLS3 is located ∼500 kb proximal to the DXZ4 macrosatellite, which is essential for X chromosome inactivation. By applying molecular combing in a total of 25 lymphoblastoid cell lines (asymptomatic individuals, individuals with SMA, control subjects) with variable PLS3 expression, we found a significant correlation between the copy number of DXZ4 monomers and PLS3 levels. Additionally, we identified chromodomain helicase DNA binding protein 4 (CHD4) as an epigenetic transcriptional regulator of PLS3 and validated co-regulation of the two genes by siRNA-mediated knock-down and overexpression of CHD4. We show that CHD4 binds the PLS3 promoter by performing chromatin immunoprecipitation and that CHD4/NuRD activates the transcription of PLS3 by dual-luciferase promoter assays. Thus, we provide evidence for a multilevel epigenetic regulation of PLS3 that may help to understand the protective or disease-associated PLS3 dysregulation.
MeSH term(s)	Female ; Humans ; Male ; Epigenesis, Genetic ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/metabolism ; Microfilament Proteins/genetics ; Motor Neurons/metabolism ; Muscular Atrophy, Spinal/genetics
Chemical Substances	CHD4 protein, human ; Mi-2 Nucleosome Remodeling and Deacetylase Complex (EC 3.5.1.98) ; Microfilament Proteins ; plastin
Language	English
Publishing date	2023-02-21
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2023.02.004
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Article ; Online: Adverse perinatal outcomes in gestational diabetes mellitus with and without SARS-CoV-2 infection during pregnancy: results from two nationwide registries in Germany.

Liedtke, Tatjana P / Weber, Katharina S / Adamczewski, Heinke / Weber, Dietmar / Ramsauer, Babett / Schaefer-Graf, Ute M / Groten, Tanja / Strathmann, Eike A / Lieb, Wolfgang / Rüdiger, Mario / Pecks, Ulrich / Kleinwechter, Helmut J

BMJ open diabetes research & care

2024 Volume 12, Issue 1

Abstract: Introduction: Pregnancy is a known independent risk factor for a severe course of COVID-19. The relationship of SARS-CoV-2 infection and gestational diabetes mellitus (GDM) on neonatal outcomes is unclear. Our aim was to determine if SARS-CoV-2 ... ...

Abstract	Introduction: Pregnancy is a known independent risk factor for a severe course of COVID-19. The relationship of SARS-CoV-2 infection and gestational diabetes mellitus (GDM) on neonatal outcomes is unclear. Our aim was to determine if SARS-CoV-2 infection represents an independent risk factor for adverse perinatal outcomes in pregnancy with GDM. Research design and methods: We compared data from two German registries including pregnant women with GDM, established during the SARS-CoV-2 pandemic (COVID-19-Related Obstetric and Neonatal Outcome Study (CRONOS), a multicenter prospective observational study) and already existing before the pandemic (German registry of pregnant women with GDM; GestDiab). In total, 409 participants with GDM and SARS-CoV-2 infection and 4598 participants with GDM, registered 2018-2019, were eligible for analyses. The primary fetal and neonatal outcomes were defined as: (1) combined: admission to neonatal intensive care unit, stillbirth, and/or neonatal death, and (2) preterm birth before 37+0 weeks of gestation. Large and small for gestational age, maternal insulin therapy, birth weight Results: Women with SARS-CoV-2 infection were younger (32 vs 33 years) and had a higher median body mass index (28 vs 27 kg/m²). In CRONOS, more neonates developed the primary outcome (adjusted OR (aOR) 1.48, 95% CI 1.11 to 1.97) and were born preterm (aOR 1.50, 95% CI 1.07 to 2.10). Fasting glucose was higher in women in CRONOS versus GestDiab (5.4 vs 5.3 mmol/L) considering each 0.1 mmol/L increase was independently associated with a 5% higher risk of preterm birth among women in CRONOS only (aOR 1.05, 95% CI 1.01 to 1.09). Conclusions: GDM with SARS-CoV-2 infection in pregnancy is associated with an increased risk of adverse fetal and neonatal outcomes as compared with GDM without SARS-CoV-2 infection.
MeSH term(s)	Pregnancy ; Female ; Infant, Newborn ; Humans ; Diabetes, Gestational/epidemiology ; Premature Birth/epidemiology ; COVID-19/complications ; COVID-19/epidemiology ; SARS-CoV-2 ; Registries
Language	English
Publishing date	2024-01-25
Publishing country	England
Document type	Observational Study ; Multicenter Study ; Journal Article
ZDB-ID	2732918-5
ISSN	2052-4897 ; 2052-4897
ISSN (online)	2052-4897
ISSN	2052-4897
DOI	10.1136/bmjdrc-2023-003724
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Article: Plastin 3 in health and disease: a matter of balance

Wolff, Lisa / Strathmann, Eike A. / Müller, Ilka / Mählich, Daniela / Veltman, Charlotte / Niehoff, Anja / Wirth, Brunhilde

Cellular and molecular life sciences. 2021 July, v. 78, no. 13

2021

Abstract: For a long time, PLS3 (plastin 3, also known as T-plastin or fimbrin) has been considered a rather inconspicuous protein, involved in F-actin-binding and -bundling. However, in recent years, a plethora of discoveries have turned PLS3 into a highly ... ...

Abstract	For a long time, PLS3 (plastin 3, also known as T-plastin or fimbrin) has been considered a rather inconspicuous protein, involved in F-actin-binding and -bundling. However, in recent years, a plethora of discoveries have turned PLS3 into a highly interesting protein involved in many cellular processes, signaling pathways, and diseases. PLS3 is localized on the X-chromosome, but shows sex-specific, inter-individual and tissue-specific expression variability pointing towards skewed X-inactivation. PLS3 is expressed in all solid tissues but usually not in hematopoietic cells. When escaping X-inactivation, PLS3 triggers a plethora of different types of cancers. Elevated PLS3 levels are considered a prognostic biomarker for cancer and refractory response to therapies. When it is knocked out or mutated in humans and mice, it causes osteoporosis with bone fractures; it is the only protein involved in actin dynamics responsible for osteoporosis. Instead, when PLS3 is upregulated, it acts as a highly protective SMN-independent modifier in spinal muscular atrophy (SMA). Here, it seems to counteract reduced F-actin levels by restoring impaired endocytosis and disturbed calcium homeostasis caused by reduced SMN levels. In contrast, an upregulation of PLS3 on wild-type level might cause osteoarthritis. This emphasizes that the amount of PLS3 in our cells must be precisely balanced; both too much and too little can be detrimental. Actin-dynamics, regulated by PLS3 among others, are crucial in a lot of cellular processes including endocytosis, cell migration, axonal growth, neurotransmission, translation, and others. Also, PLS3 levels influence the infection with different bacteria, mycosis, and other pathogens.
Keywords	X chromosome ; actin ; biomarkers ; calcium ; cell movement ; endocytosis ; homeostasis ; muscular atrophy ; mycoses ; osteoarthritis ; osteoporosis ; synaptic transmission
Language	English
Dates of publication	2021-07
Size	p. 5275-5301.
Publishing place	Springer International Publishing
Document type	Article
Note	Review
ZDB-ID	1358415-7
ISSN	1420-9071 ; 1420-682X
ISSN (online)	1420-9071
ISSN	1420-682X
DOI	10.1007/s00018-021-03843-5
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Article ; Online: Plastin 3 in health and disease: a matter of balance.

Wolff, Lisa / Strathmann, Eike A / Müller, Ilka / Mählich, Daniela / Veltman, Charlotte / Niehoff, Anja / Wirth, Brunhilde

Cellular and molecular life sciences : CMLS

2021 Volume 78, Issue 13, Page(s) 5275–5301

Abstract	For a long time, PLS3 (plastin 3, also known as T-plastin or fimbrin) has been considered a rather inconspicuous protein, involved in F-actin-binding and -bundling. However, in recent years, a plethora of discoveries have turned PLS3 into a highly interesting protein involved in many cellular processes, signaling pathways, and diseases. PLS3 is localized on the X-chromosome, but shows sex-specific, inter-individual and tissue-specific expression variability pointing towards skewed X-inactivation. PLS3 is expressed in all solid tissues but usually not in hematopoietic cells. When escaping X-inactivation, PLS3 triggers a plethora of different types of cancers. Elevated PLS3 levels are considered a prognostic biomarker for cancer and refractory response to therapies. When it is knocked out or mutated in humans and mice, it causes osteoporosis with bone fractures; it is the only protein involved in actin dynamics responsible for osteoporosis. Instead, when PLS3 is upregulated, it acts as a highly protective SMN-independent modifier in spinal muscular atrophy (SMA). Here, it seems to counteract reduced F-actin levels by restoring impaired endocytosis and disturbed calcium homeostasis caused by reduced SMN levels. In contrast, an upregulation of PLS3 on wild-type level might cause osteoarthritis. This emphasizes that the amount of PLS3 in our cells must be precisely balanced; both too much and too little can be detrimental. Actin-dynamics, regulated by PLS3 among others, are crucial in a lot of cellular processes including endocytosis, cell migration, axonal growth, neurotransmission, translation, and others. Also, PLS3 levels influence the infection with different bacteria, mycosis, and other pathogens.
MeSH term(s)	Animals ; Humans ; Membrane Glycoproteins/genetics ; Membrane Glycoproteins/metabolism ; Microfilament Proteins/genetics ; Microfilament Proteins/metabolism ; Motor Neurons/physiology ; Muscular Atrophy, Spinal/physiopathology ; Osteoclasts/cytology ; Osteoclasts/physiology ; Osteoporosis/physiopathology
Chemical Substances	Membrane Glycoproteins ; Microfilament Proteins ; plastin
Language	English
Publishing date	2021-05-23
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	1358415-7
ISSN	1420-9071 ; 1420-682X
ISSN (online)	1420-9071
ISSN	1420-682X
DOI	10.1007/s00018-021-03843-5
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Article ; Online: Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.

Strathmann, Eike A / Peters, Miriam / Hosseinibarkooie, Seyyedmohsen / Rigo, Frank W / Bennett, C Frank / Zaworski, Phillip G / Chen, Karen S / Nothnagel, Michael / Wirth, Brunhilde

PloS one

2018 Volume 13, Issue 9, Page(s) e0203398

Abstract: Objectives: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and insufficient functional SMN protein produced by the SMN2 copy gene. Additional genetic protective ... ...

Abstract	Objectives: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and insufficient functional SMN protein produced by the SMN2 copy gene. Additional genetic protective modifiers such as Plastin 3 (PLS3) can counteract SMA pathology despite insufficient SMN protein. Recently, Spinraza, an SMN antisense oligonucleotide (ASO) that restores full-length SMN2 transcripts, has been FDA- and EMA-approved for SMA therapy. Hence, the availability of biomarkers allowing a reliable monitoring of disease and therapy progression would be of great importance. Our objectives were (i) to analyse the feasibility of SMN and of six SMA biomarkers identified by the BforSMA study in the Taiwanese SMA mouse model, (ii) to analyse the effect of PLS3 overexpression on these biomarkers, and (iii) to assess the impact of low-dose SMN-ASO therapy on the level of SMN and the six biomarkers. Methods: At P10 and P21, the level of SMN and six putative biomarkers were compared among SMA, heterozygous and wild type mice, with or without PLS3 overexpression, and with or without presymptomatic low-dose SMN-ASO subcutaneous injection. SMN levels were measured in whole blood by ECL immunoassay and of six SMA putative biomarkers, namely Cartilage Oligomeric Matrix Protein (COMP), Dipeptidyl Peptidase 4 (DPP4), Tetranectin (C-type Lectin Family 3 Member B, CLEC3B), Osteopontin (Secreted Phosphoprotein 1, SPP1), Vitronectin (VTN) and Fetuin A (Alpha 2-HS Glycoprotein, AHSG) in plasma. Results: SMN levels were significantly discernible between SMA, heterozygous and wild type mice. However, no significant differences were measured upon low-dose SMN-ASO treatment compared to untreated animals. Of the six biomarkers, only COMP and DPP4 showed high and SPP1 moderate correlation with the SMA phenotype. PLS3 overexpression neither influenced the SMN level nor the six biomarkers, supporting the hypothesis that PLS3 acts as an independent protective modifier.
MeSH term(s)	Animals ; Biomarkers/metabolism ; Gene Expression Regulation/drug effects ; Membrane Glycoproteins/biosynthesis ; Membrane Glycoproteins/genetics ; Mice ; Mice, Knockout ; Microfilament Proteins/biosynthesis ; Microfilament Proteins/genetics ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/metabolism ; Muscular Atrophy, Spinal/pathology ; Muscular Atrophy, Spinal/therapy ; Oligodeoxyribonucleotides, Antisense/pharmacology ; Survival of Motor Neuron 1 Protein/antagonists & inhibitors ; Survival of Motor Neuron 1 Protein/biosynthesis ; Survival of Motor Neuron 1 Protein/genetics
Chemical Substances	Biomarkers ; Membrane Glycoproteins ; Microfilament Proteins ; Oligodeoxyribonucleotides, Antisense ; Smn1 protein, mouse ; Survival of Motor Neuron 1 Protein ; plastin
Language	English
Publishing date	2018-09-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0203398
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Article ; Online: Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.

Karakaya, Mert / Storbeck, Markus / Strathmann, Eike A / Delle Vedove, Andrea / Hölker, Irmgard / Altmueller, Janine / Naghiyeva, Leyla / Schmitz-Steinkrüger, Lea / Vezyroglou, Katharina / Motameny, Susanne / Alawbathani, Salem / Thiele, Holger / Polat, Ayse Ipek / Okur, Derya / Boostani, Reza / Karimiani, Ehsan Ghayoor / Wunderlich, Gilbert / Ardicli, Didem / Topaloglu, Haluk /

Kirschner, Janbernd / Schrank, Bertold / Maroofian, Reza / Magnusson, Olafur / Yis, Uluc / Nürnberg, Peter / Heller, Raoul / Wirth, Brunhilde

Human mutation

2018 Volume 39, Issue 9, Page(s) 1284–1298

Abstract: Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron degeneration (LMND). In a large cohort of 3,465 individuals suspected with SMA ... ...

Abstract	Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron degeneration (LMND). In a large cohort of 3,465 individuals suspected with SMA submitted for SMN1 testing to our routine diagnostic laboratory, 48.8% carried a homozygous SMN1 deletion, 2.8% a subtle mutation, and an SMN1 deletion, whereas 48.4% remained undiagnosed. Recently, several other genes implicated in SMA/LMND have been reported. Despite several efforts to establish a diagnostic algorithm for non-5q-SMA (SMA without deletion or point mutations in SMN1 [5q13.2]), data from large-scale studies are not available. We tested the clinical utility of targeted sequencing in non-5q-SMA by developing two different gene panels. We first analyzed 30 individuals with a small panel including 62 genes associated with LMND using IonTorrent-AmpliSeq target enrichment. Then, additional 65 individuals were tested with a broader panel encompassing up to 479 genes implicated in neuromuscular diseases (NMDs) with Agilent-SureSelect target enrichment. The NMD panel provided a higher diagnostic yield (33%) than the restricted LMND panel (13%). Nondiagnosed cases were further subjected to exome or genome sequencing. Our experience supports the use of gene panels covering a broad disease spectrum for diseases that are highly heterogeneous and clinically difficult to differentiate.
MeSH term(s)	Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Exons/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Infant ; Male ; Middle Aged ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/pathology ; Neuromuscular Diseases/diagnosis ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/physiopathology ; Pathology, Molecular ; Point Mutation ; Sequence Deletion ; Survival of Motor Neuron 1 Protein/genetics ; Whole Exome Sequencing ; Whole Genome Sequencing ; Young Adult
Chemical Substances	SMN1 protein, human ; Survival of Motor Neuron 1 Protein
Language	English
Publishing date	2018-07-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.23560
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