Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1

Maija Siitonen¹, Anne Börjesson-Hanson², Minna Pöyhönen^{3

4}, Ari Ora⁵, Petra Pasanen^{1

6}, Jose Bras^{7

8}, Silke Kern², Jürgen Kern², Oluf Andersen⁹, Horia Stanescu¹⁰, Robert Kleta¹⁰, Marc Baumann¹¹, Rajesh Kalaria¹², Hannu Kalimo¹³, Andy Singleton¹⁴, John Hardy^{7

15}, Matti Viitanen^{16

17}, Liisa Myllykangas¹³, Rita Guerreiro^{7

8}

Affiliations

¹ Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland.
² Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
³ Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
⁴ Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
⁵ Department of Applied Physics, Aalto University, Espoo, Finland.
⁶ Tyks Microbiology and Genetics, Turku University Hospital, Turku, Finland.
⁷ Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
⁸ Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, Aveiro, Portugal.
⁹ Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
¹⁰ Centre for Nephrology University College London, London, UK.
¹¹ Meilahti Clinical Proteomics Core Unit, Department of Biochemistry and Developmental Biology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
¹² Institute of Neuroscience, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, UK.
¹³ Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
¹⁴ Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
¹⁵ Reta Lila Weston Institute, UCL Institute of Neurology, London, UK.
¹⁶ Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Karolinska University Hospital Huddinge, Stockholm, Sweden.
¹⁷ Department of Geriatrics, University of Turku and Turku City Hospital, Turku, Finland.

PMID: 28369186
PMCID: PMC6248625
DOI: 10.1093/brain/awx062

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1

Maija Siitonen et al. Brain. 2017.

. 2017 May 1;140(5):e29.

doi: 10.1093/brain/awx062.

Authors

Affiliations

¹ Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland.
² Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
³ Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
⁴ Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
⁵ Department of Applied Physics, Aalto University, Espoo, Finland.
⁶ Tyks Microbiology and Genetics, Turku University Hospital, Turku, Finland.
⁷ Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
⁸ Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, Aveiro, Portugal.
⁹ Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
¹⁰ Centre for Nephrology University College London, London, UK.
¹¹ Meilahti Clinical Proteomics Core Unit, Department of Biochemistry and Developmental Biology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
¹² Institute of Neuroscience, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, UK.
¹³ Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
¹⁴ Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
¹⁵ Reta Lila Weston Institute, UCL Institute of Neurology, London, UK.
¹⁶ Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Karolinska University Hospital Huddinge, Stockholm, Sweden.
¹⁷ Department of Geriatrics, University of Turku and Turku City Hospital, Turku, Finland.

PMID: 28369186
PMCID: PMC6248625
DOI: 10.1093/brain/awx062

No abstract available

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Figures

**Figure 1**
**Pedigree of the Swedish hMID family and luciferase assay of wild-type and mutant transfected cells.** (A) Pedigree of the Swedish hMID family. Family members included in the study are marked with B-DNA (blood-derived DNA) or FFPE (formalin fixed paraffin embedded tissue) according to the sample type available. Black symbols represent affected individuals and white symbols represent healthy family members. Diagonal lines indicate deceased individuals. The arrowhead indicates the proband (Subject II:5). (B) Luciferase assay. HEK-293T cells were transfected with pMIR-REPORT luciferase wild-type (WT) or mutant (mut). Cells were co-transfected either with miR-29b-3p (black bars) or negative control microRNA (white bars). Normalized luciferase activity of cells transfected with the wild-type construct was significantly decreased by miR-29b-3p, compared to cells transfected with a mimic-negative control. Luciferase activity was not altered in cells transfected with a mutated construct (^***P < 0.001, two-sided Student t-test). Error bars indicate mean standard deviation.

See this image and copyright information in PMC

References

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Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1

Affiliations

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1

Authors

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Figures

References

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LinkOut - more resources

Full Text Sources

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