Article
Clinical Neurology
Stephen Mullin, Morten Gersel Stokholm, Derralyn Hughes, Atul Mehta, Peter Parbo, Rainer Hinz, Nicola Pavese, David J. Brooks, Anthony H. Schapira
Summary: The study found that carriers of glucocerebrosidase gene mutations without Parkinson's disease also present neuroinflammation. Microglial activation was observed in brain regions susceptible to Lewy pathology. Importantly, the degree of hyposmia was positively correlated with nigral binding potential.
MOVEMENT DISORDERS
(2021)
Article
Cardiac & Cardiovascular Systems
Noah Gruber, Lilach Marom Haham, Hila Raanani, Yoram Cohen, Lidia Gabis, Michal Berkenstadt, Liat Ries-Levavi, Shai Elizur, Orit Pinhas-Hamiel
Summary: Women with fragile X premutation (FXPC) have an increased metabolic risk, particularly in terms of waist circumference, glucose, and lipid levels. Metabolic screening is recommended for all women with FMR1 premutation to prevent cardiovascular comorbidities.
NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
(2022)
Article
Clinical Neurology
Maria Paulina Castelo Rueda, Athina Raftopoulou, Martin Goegele, Max Borsche, David Emmert, Christian Fuchsberger, Essi M. Hantikainen, Vladimir Vukovic, Christine Klein, Peter P. Pramstaller, Irene Pichler, Andrew A. Hicks
Summary: Mutations in the Parkin gene are a common cause of early-onset Parkinson's disease. Heterozygous carriers of these mutations may be at increased risk for developing clinical symptoms of the disease. This study identified specific biomarkers that could be used to identify variant carriers at greater risk of health issues.
FRONTIERS IN NEUROLOGY
(2021)
Review
Cell Biology
Daniel Aghaie Madsen, Sissel Ida Schmidt, Morten Blaabjerg, Morten Meyer
Summary: This review article examines the role of Parkin and alpha-synuclein in the pathophysiology of Parkinson's disease, particularly focusing on the PARK2 gene mutations causing early-onset PD and the interaction between parkin and alpha-synuclein in protein aggregation regulation. The study provides insights into the potential formation of intracellular micro-aggregates in PARK2-related PD, suggesting new avenues for research into primary signaling processes involved in PD and related neurodegenerative disorders.
Article
Medicine, General & Internal
Onur B. B. Dolmaci, Sulayman El Mathari, Antoine H. G. Driessen, Robert J. M. Klautz, Robert E. E. Poelmann, Jan H. N. Lindeman, Nimrat Grewal
Summary: This study aimed to test whether thoracic aortic aneurysms are also associated with an increased cardiovascular risk burden. The results showed a higher prevalence of hypertension and a lower prevalence of diabetes in patients with thoracic aneurysms compared to the general population. Therefore, unlike abdominal aortic aneurysms, thoracic aneurysms do not need cardiovascular risk management in treatment guidelines, but hypertension should be treated.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Melanie P. Jensen, Benjamin Meir Jacobs, Ruth Dobson, Sara Bandres-Ciga, Cornelis Blauwendraat, Anette Schrag, Alastair J. Noyce
Summary: Lower lymphocyte count is associated with an increased risk of subsequent Parkinson's disease. Other blood markers, such as reductions in eosinophil counts, monocyte counts, and C-reactive protein, may also be related to increased disease risk, but only the association with lower lymphocyte count remains robust. Mendelian randomization analysis suggests a potential causal relationship between lower lymphocyte count and Parkinson's disease risk.
ANNALS OF NEUROLOGY
(2021)
Article
Clinical Neurology
Kensuke Daida, Manabu Funayama, Kimberley J. Billingsley, Laksh Malik, Abigail Miano-Burkhardt, Hampton L. Leonard, Mary B. Makarious, Hirotaka Iwaki, Jinhui Ding, J. Raphael Gibbs, Mayu Ishiguro, Hiroyo Yoshino, Kotaro Ogaki, Genko Oyama, Kenya Nishioka, Risa Nonaka, Wado Akamatsu, Cornelis Blauwendraat, Nobutaka Hattori
Summary: This study identified a large novel 7 Mb inversion involving PRKN, which is associated with young-onset Parkinson's disease. Long-read sequencing proved to be valuable for detecting complex structural variants in unresolved PD cases. The findings highlight the importance of investigating structural variants in PRKN using advanced sequencing technologies.
MOVEMENT DISORDERS
(2023)
Article
Gastroenterology & Hepatology
Shuji Hibiya, Yusuke Matsuyama, Toshimitsu Fujii, Chiaki Maeyashiki, Eiko Saito, Kimiko Ito, Hiromichi Shimizu, Ami Kawamoto, Maiko Motobayashi, Kento Takenaka, Masakazu Nagahori, Masayuki Kurosaki, Tsunehito Yauchi, Kazuo Ohtsuka, Takeo Fujiwara, Ryuichi Okamoto, Mamoru Watanabe
Summary: A study in Japan investigated the association between 5-ASA tolerance and colectomy risk among UC patients, finding that patients intolerant to 5-ASA had a higher risk of undergoing colectomy compared to those tolerant to it.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Clinical Neurology
Marianne Canonico, Giancarlo Pesce, Audrey Bonaventure, Maryline Le Noan-Laine, Isabelle Benatru, Daniele Ranoux, Frederic Moisan, Alexis Elbaz
Summary: Research findings suggest that bilateral oophorectomy is associated with an increased risk of Parkinson's disease, while early menopause before age 50 or hormone therapy does not show an association with the disease.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Tomi Kuusimaki, Haidar Al-Abdulrasul, Samu Kurki, Jarmo Hietala, Sirpa Hartikainen, Marjaana Koponen, Anna-Maija Tolppanen, Valtteri Kaasinen
Summary: The study revealed that schizophrenia spectrum disorder increases the risk of developing Parkinson's disease, as observed in both individual patient data and nationwide register data.
MOVEMENT DISORDERS
(2021)
Article
Endocrinology & Metabolism
Maya E. Lee, Yashira M. Ortega-Sustache, Sunita K. Agarwal, Aisha Tepede, James Welch, Adel Mandl, Rashika Bansal, Amit Tirosh, Paolo Piaggi, Craig Cochran, William F. Simonds, Lee S. Weinstein, Jenny E. Blau
Summary: MEN1 patients have an increased risk of venous thromboembolism (VTE), with a prevalence rate of 12.9% and an age-sex adjusted incidence rate of 9.11 per 1000 patient-years. The majority of patients who had a VTE were diagnosed with pancreatic NETs. Further studies are needed to confirm the increased prevalence of VTE in MEN1.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Clinical Neurology
William Zhu, Xiaoping Huang, Esther Yoon, Sara Bandres-Ciga, Cornelis Blauwendraat, Kimberly J. Billingsley, Joshua H. Cade, Beverly P. Wu, Victoria H. Williams, Alice B. Schindler, Janet Brooks, J. Raphael Gibbs, Dena G. Hernandez, Debra Ehrlich, Andrew B. Singleton, Derek P. Narendra
Summary: Based on a comprehensive analysis of PRKN mutations, this study finds that heterozygous pathogenic PRKN mutations are common in the population but do not increase the risk of Parkinson's disease. This has implications for gene and cell replacement therapies for Parkinson's disease.
Article
Pediatrics
Yuan-Yuan Zeng, Feng Chen, Yong Zhang, Xing Ji
Summary: Through a meta-analysis involving 20 studies with a total of 1684 subjects (990 patients after KD and 694 controls), it was found that patients after KD had significantly higher levels of carotid intima-media thickness (cIMT) and high-sensitivity C-reactive protein (hsCRP), while flow-mediated dilatation (FMD) was significantly lower. There were no significant differences in total cholesterol (TC), low-density lipoprotein cholesterol (LDL), or triglycerides (TG). These findings suggest that patients with a history of KD may have an increased risk for accelerated atherosclerosis due to endothelial dysfunction and inflammatory processes.
WORLD JOURNAL OF PEDIATRICS
(2021)
Article
Neurosciences
David Nguyen, Vinita Bharat, Devon M. Conradson, Pawan Nandakishore, Xinnan Wang
Summary: The study identified the mitochondrial protein Miro1 as potentially a molecular marker for Parkinson's disease and at-risk individuals. The response of Miro1 to mitochondrial depolarization was significantly associated with PD risk, suggesting its potential use for detecting both PD and at-risk populations. Tracking the Miro1 marker could assist in diagnosis and Miro1-based drug discoveries.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Oncology
Joshua Ogony, Tanya L. Hoskin, Melody Stallings-Mann, Stacey Winham, Rushin Brahmbhatt, Muhammad Asad Arshad, Nagarajan Kannan, Alvaro Pena, Teresa Allers, Alyssa Brown, Mark E. Sherman, Daniel W. Visscher, Keith L. Knutson, Derek C. Radisky, Amy C. Degnim
Summary: This study indicates that normal/benign breast lobules of BRCA mutation carriers have higher immune cell densities compared to normal donor breast tissues, and benign breast disease tissues are more similar to BRCA carriers except for the CD8+ cells.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Neurosciences
Ana Silva, Magnus O. Ulfarsson, Hreinn Stefansson, Omar Gustafsson, G. Bragi Walters, David E. J. Linden, Lawrence S. Wilkinson, Mark Drakesmith, Michael J. Owen, Jeremy Hall, Kari Stefansson
BIOLOGICAL PSYCHIATRY
(2019)
Article
Biochemistry & Molecular Biology
Hafdis Helgadottir, Par Lundin, Emelie Wallen Arzt, Anna-Karin Lindstrom, Caroline Graff, Maria Eriksson
HUMAN MOLECULAR GENETICS
(2019)
Article
Dermatology
Agustin Sola-Carvajal, Gwladys Revechon, Hafdis T. Helgadottir, Daniel Whisenant, Robin Hagblom, Julia Dohla, Pekka Katajisto, David Brodin, Fredrik Fagerstrom-Billai, Nikenza Viceconte, Maria Eriksson
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2019)
Article
Multidisciplinary Sciences
B. A. Jonsson, G. Bjornsdottir, T. E. Thorgeirsson, L. M. Ellingsen, G. Bragi Walters, D. F. Gudbjartsson, H. Stefansson, K. Stefansson, M. O. Ulfarsson
NATURE COMMUNICATIONS
(2019)
Article
Oncology
Hafdis T. Helgadottir, Jessada Thutkawkorapin, Anna Rohlin, Margareta Nordling, Kristina Lagerstedt-Robinson, Annika Lindblom
Summary: Identifying pathogenic variants remains challenging despite a strong history of CRC within families. Some rare high-risk mutations may cumulatively contribute to the occurrence of CRC in these families.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Editorial Material
Neurosciences
Hreinn Stefansson, Kari Stefansson
BIOLOGICAL PSYCHIATRY
(2021)
Article
Multidisciplinary Sciences
Hafdis T. Helgadottir, Jessada Thutkawkorapin, Kristina Lagerstedt-Robinson, Annika Lindblom
Summary: Identifying pathogenic variants in individuals with a strong family history of breast cancer remains challenging, despite advancements in sequencing technology. Through exome sequencing, known pathogenic variants in BRIP1 and PALB2 genes were identified, along with 22 high-risk variants in novel breast cancer candidate genes. Further studies are needed to validate these findings and explore the potential roles of these genes in breast cancer susceptibility.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Wen Liu, Hovsep Mahdessian, Hafdis Helgadottir, Xingwu Zhou, Jessada Thutkawkorapin, Xiang Jiao, Alicja Wolk, Annika Lindblom
Summary: Using haplotype analysis in Swedish CRC samples, novel risk loci were identified. The findings of loci on chromosomes 2q36.1 and 20q13.33 in the analysis of all samples were replicated in a second cohort. The study suggests that a risk locus may involve multiple genes, and haplotypes can offer insights into the genes possibly involved at specific loci.
MOLECULAR CARCINOGENESIS
(2022)
Review
Neurosciences
Ana I. Silva, Friederike Ehrhart, Magnus O. Ulfarsson, Hreinn Stefansson, Kari Stefansson, Lawrence S. Wilkinson, Jeremy Hall, David E. J. Linden
Summary: Genomic copy number variants (CNVs) are associated with a high risk of neurodevelopmental disorders, and these high-risk genetic variants converge in common molecular pathways. Studies have shown that different CNVs have similar effects on core sensory, cognitive, and motor traits. Neuroimaging studies have provided valuable information on how CNVs affect brain structure and function. However, most studies only examine one CNV at a time, making it difficult to fully understand the extent of shared brain effects.
BIOLOGICAL PSYCHIATRY
(2022)
Article
Oncology
Elin Barnekow, Wen Liu, Hafdis T. Helgadottir, Kyriaki Michailidou, Joe Dennis, Patrick Bryant, Jessada Thutkawkorapin, Camilla Wendt, Kamila Czene, Per Hall, Sara Margolin, Annika Lindblom
Summary: By analyzing combinations of chromosomal nearby variants, we identified a novel genetic breast cancer risk locus on chromosome 8 and confirmed three well known low risk loci.
Article
Biochemistry & Molecular Biology
Yaxuan Liu, Hafdis T. Helgadottir, Pedram Kharaziha, Jungmin Choi, Francesc Lopez-Giraldez, Shrikant M. Mane, Veronica Hoiom, Carl Christofer Juhlin, Catharina Larsson, Svetlana Bajalica-Lagercrantz
Summary: This study aimed to identify new predisposing genes for hereditary breast cancer (HBC) using whole-exome sequencing, but no pathogenic variants in known hereditary cancer-related genes were found. Further analysis suggested that a combination of low- and intermediate-genetic-risk variants might contribute to breast cancer susceptibility in these families.
Article
Genetics & Heredity
Anna Lindstrand, Marlene Ek, Malin Kvarnung, Britt-Marie Anderlid, Erik Bjoerck, Jonas Carlsten, Jesper Eisfeldt, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjoe, Hafdis T. Helgadottir, Maritta Hellstroem-Pigg, Ekaterina Kuchinskaya, Kristina Lagerstedt-Robinson, Lars-Ake Levin, Agne Lieden, Hillevi Lindeloef, Helena Malmgren, Daniel Nilsson, Eva Svensson, Martin Paucar, Ellika Sahlin, Bianca Tesi, Emma Tham, Johanna Winberg, Max Winerdal, Josephine Wincent, Maria Johansson Soller, Maria Pettersson, Ann Nordgren
Summary: This study compared the results of different diagnostic approaches in individuals with intellectual disability/neurodevelopmental disorders and found that genome sequencing (GS) performed as a first-line test had a higher diagnostic yield of 35% compared to other strategies. GS has the potential to replace traditional methods such as chromosomal microarray (CMA) and FMR1 analysis, offering advantages in terms of diagnostic time and cost.
GENETICS IN MEDICINE
(2022)
Article
Clinical Neurology
Muhammad Sulaman Nawaz, Gudmundur Einarsson, Mariana Bustamante, Rosa S. Gisladottir, G. Bragi Walters, Gudrun A. Jonsdottir, Astros Th Skuladottir, Gyda Bjornsdottir, Sigurdur H. Magnusson, Bergrun Asbjornsdottir, Unnur Unnsteinsdottir, Engilbert Sigurdsson, Palmi Jonsson, Vala Kolbrun Palmadottir, Sigurjon A. Gudjonsson, Gisli H. Halldorsson, Egil Ferkingstad, Ingileif Jonsdottir, Gudmar Thorleifsson, Hilma Holm, Unnur Thorsteinsdottir, Patrick Sulem, Daniel F. Gudbjartsson, Hreinn Stefansson, Thorgeir E. Thorgeirsson, Magnus O. Ulfarsson, Kari Stefansson
Summary: Intracranial volume is heritable and associated with cognitive traits and neurological disorders. This study identified genetic variants and genes that mediate the effect of these variants on intracranial volume. Additionally, intracranial volume is genetically correlated with volumes of different brain regions, cognitive abilities, and neurological traits. Importantly, differences in intracranial volume were observed in Parkinson's disease and attention deficit hyperactivity disorder cases.
BRAIN COMMUNICATIONS
(2022)
Article
Oncology
Serena Barilla, Annika Lindblom, Hafdis T. Helgadottir
Summary: This study identified rare and common genetic variants associated with the development of prostate cancer through whole-genome sequencing. The researchers found 38 high-risk gene variants and 332 low-risk gene variants, which can be used for targeted screening in high-risk families.
HEREDITARY CANCER IN CLINICAL PRACTICE
(2022)
Article
Biotechnology & Applied Microbiology
Irene Franco, Hafdis T. Helgadottir, Aldo Moggio, Malin Larsson, Peter Vrtacnik, Anna Johansson, Nina Norgren, Par Lundin, David Mas-Ponte, Johan Nordstrom, Torbjorn Lundgren, Peter Stenvinkel, Lars Wennberg, Fran Supek, Maria Eriksson