Article
Multidisciplinary Sciences
Giuliana G. Repetti, Yuri Kim, Alexandre C. Pereira, Jodie Ingles, Mark W. Russell, Neal K. Lakdawala, Carolyn Y. Ho, Sharlene Day, Christopher Semsarian, Barbara McDonough, Steven R. DePalma, Daniel Quiat, Eric M. Green, Christine E. Seidman, J. G. Seidman
Summary: The clinical expression of hypertrophic cardiomyopathy (HCM) is influenced by background genetic variation and environmental factors. A study of 11 pairs of monozygotic HCM twins showed discordant cardiac morphology even among twins with the same pathogenic variant, indicating a significant role for epigenetics and environment in HCM disease progression. Whole genome sequencing analysis did not reveal notable somatic genetic variants to explain the clinical differences in the twins.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Psychology, Clinical
Jeremy Harper, Sylia Wilson, Jessica L. Bair, Ruskin H. Hunt, Kathleen M. Thomas, Stephen M. Malone, William G. Iacono
Summary: This study examines the effects of alcohol, cannabis, and nicotine use on hippocampal volume in young women and finds that greater substance use is significantly associated with lower hippocampal volume. These effects may be influenced by family risk and the consequences of smoking and drinking.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Abdullah Aamir, Helen J. Kuht, Rebecca J. McLean, Gail D. E. Maconachie, Viral Sheth, Basu Dawar, Ravi Purohit, Nicolas Sylvius, Michael Hisaund, Alina Zubcov-Iwantscheff, Frank A. Proudlock, Irene Gottlob, Mervyn G. Thomas
Summary: Infantile nystagmus (IN) can be caused by various factors such as albinism and FRMD7 mutations. A study on monozygotic twins found that they may have the same genotype but display different phenotypes, suggesting that genetic variants and environmental factors contribute to the development of nystagmus with variable expressivity.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Carlotta Bolliri, Alessandra Fontana, Emanuele Cereda, Michela Barichella, Roberto Cilia, Valentina Ferri, Serena Caronni, Daniela Calandrella, Lorenzo Morelli, Gianni Pezzoli
Summary: Differences in gut microbiota between Parkinson's disease patients and controls may be influenced by various confounding factors. Using monozygotic twins, this study controlled for these factors and found minimal differences in bacterial taxa abundance and predicted metabolic pathways. Further research is needed to understand the role of gut microbiota in the pathogenesis of Parkinson's disease.
ANNALS OF NEUROLOGY
(2022)
Article
Clinical Neurology
Marija Dulovic-Mahlow, Inke R. Koenig, Joanne Trinh, Sokhna Haissatou Diaw, Peter P. Urban, Evelyn Knappe, Neele Kuhnke, Lena-Christin Ingwersen, Frauke Hinrichs, Joachim Weber, Patrycja Kupnicka, Alexander Balck, Sylvie Delcambre, Tillman Vollbrandt, Anne Gruenewald, Christine Klein, Philip Seibler, Katja Lohmann
Summary: This study found decreased mitochondrial functionality in fibroblast cultures from monozygotic twins discordant for Parkinson's disease, with alterations in ATP levels, morphology, and gene expression. Despite their identical genetic background, affected twins showed differences in mitochondrial integrity, suggesting a potential role of mitochondrial dysfunction in disease etiology.
ANNALS OF NEUROLOGY
(2021)
Article
Cell Biology
Matteo Vecellio, Elvezia Maria Paraboschi, Angela Ceribelli, Natasa Isailovic, Francesca Motta, Giulia Cardamone, Michela Robusto, Rosanna Asselta, Sonia Brescianini, Francesco Sacrini, Antonio Costanzo, Maria De Santis, Maria Antonietta Stazi, Stefano Duga, Carlo Selmi
Summary: A study on monozygotic twins revealed DNA methylation differences in psoriatic disease patients compared to controls, involving genes related to the TGF-beta signaling pathway. Transcriptome data further identified the IL-6/JAK/STAT3 and TNF-alpha pathways as key players in the disease.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Neurosciences
Julian Macoveanu, Iselin Meluken, Lars Vedel Kessing, Hartwig Roman Siebner, Maj Vinberg, Kamilla Woznica Miskowiak
Summary: The study found that in remitted affected twins with affective disorders, a smaller volume of left dorsomedial prefrontal cortex was observed, while unaffected discordant twins showed larger hippocampal volumes, possibly associated with resilience in healthy relatives.
NEUROPSYCHOPHARMACOLOGY
(2021)
Article
Obstetrics & Gynecology
Liran Hiersch, Jon Barrett, Amir Aviram, Elad Mei-Dan, Eugene W. Yoon, Arthur Zaltz, John Kingdom, Nir Melamed
Summary: This study classified distinct growth patterns of discordant fetal growth in twin pregnancies and found that these patterns were associated with adverse pregnancy outcomes. The early progressive discordance group showed the strongest association with preterm birth and preeclampsia, while the late discordance group had the weakest association.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Psychiatry
C. Iranzo-Tatay, D. Hervas-Marin, L. M. Rojo-Bofill, D. Garcia, F. J. Vaz-Leal, I Calabria, L. Beato-Fernandez, S. Oltra, J. Sandoval, L. Rojo-Moreno
Summary: This study focuses on the epigenomic landscapes in twin samples discordant for Anorexia nervosa (AN), aiming to find evidence for the role of epigenetic variations in AN's etiology. The study reveals genetic links between AN and metabolic traits, as well as psychiatric comorbidity.
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Multidisciplinary Sciences
Eric M. Nickels, Shaobo Li, Swe Swe Myint, Katti Arroyo, Qianxi Feng, Kimberly D. Siegmund, Adam J. de Smith, Joseph L. Wiemels
Summary: The study examines the role of DNA methylation variation in predisposing to pediatric acute lymphoblastic leukemia using a discordant twin model. The findings suggest that DNA hypomethylation may contribute to the risk of leukemia development.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Helia Imany-Shakibai, Ophelia Yin, Matthew R. Russell, Mark Sklansky, Gary Satou, Yalda Afshar
Summary: A study on congenital heart defects in monochorionic twins showed a six-fold increase compared to singleton or dichorionic twins. Among 23 twin pairs with CHD, 5 were concordant and 18 were discordant. Most cases had discordant phenotypes, suggesting possible environmental and epigenetic influences on the development of discordant CHD in monochorionic twins.
Article
Cell & Tissue Engineering
Peiyun Ni, Huiyao Wang, Jia Cai, Junzhe Ran, Youhui Jiang, Liansheng Zhao, Jinxue Wei, Rongjun Ni, Yingcheng Wang, Xiaohong Ma, Qiang Wang, Wanjun Guo, Tao Li
Summary: In this study, iPSCs were generated from peripheral blood mononuclear cells donated by dizygotic twins, where one twin had schizophrenia and the other twin was a healthy control. These iPSCs lines expressed pluripotency markers and had the ability to differentiate into various cell types.
STEM CELL RESEARCH
(2022)
Article
Genetics & Heredity
Do-Yun Lee, Jun-Yeong Jeong, Seung-Eun Lee, Jae-Hun Lee, Ju-Young Moon, Su Woong Jung, Sang-Ho Lee, Yang Gyun Kim
Summary: This case report presents a pair of male monozygotic twins with Fabry disease (FD) who exhibit different renal phenotypes. Genetic testing revealed identical mutations in the twins, as well as in their mother, older sister, and daughter. The findings suggest that environmental or epigenetic factors may play a critical role in genotype-phenotype discordance.
FRONTIERS IN GENETICS
(2023)
Article
Immunology
Joshua Wade, Sarah May Johnson, Ingrid Burkhardt, Alexia Egloff, Jessica Thomas, Edward Guy, Alicia Demirjian
Summary: This article discusses the process of investigating congenital infections in a set of twins, with one child diagnosed with Toxoplasmosis and CMV infection, and the other diagnosed with CMV infection, highlighting the complexity and challenges in dealing with infections in infants.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2022)
Article
Genetics & Heredity
Jun Dai, Ming Leung, Weihua Guan, Han-Tian Guo, Ruth E. Krasnow, Thomas J. Wang, Wael El-Rifai, Zhongming Zhao, Terry Reed
Summary: This study found that DNA hydroxymethylation is associated with the risk of cardiovascular death, independent of germline and common environmental factors. A total of 102 differentially hydroxymethylated regions (DhMRs) were identified, predominantly hyper-hydroxymethylated, on most chromosomes except for chromosome 21 and the Y chromosome. Additionally, a binary linear classifier predicting cardiovascular death was identified for dizygotic pairs, equivalent to the one generated for monozygotic pairs.
Article
Sport Sciences
K. Toivo, H. Vaha-Ypya, P. Kannus, K. Tokola, L. Alanko, O. J. Heinonen, R. Korpelainen, J. Parkkari, K. Savonen, H. Selanne, S. Kokko, U. M. Kujala, J. Villberg, T. Vasankari
Summary: This study describes the amount and intensity of physical activity measured by accelerometry among adolescents participating in organized sports and their non-participating peers. The study found that participating in organized sports makes it easier to meet the recommended 60 minutes of moderate-to-vigorous physical activity daily.
EUROPEAN JOURNAL OF SPORT SCIENCE
(2023)
Article
Nutrition & Dietetics
Kristin Suorsa, Tuija Leskinen, Jesse Pasanen, Anna Pulakka, Saana Myllyntausta, Jaana Pentti, Sebastien Chastin, Jussi Vahtera, Sari Stenholm
Summary: The study found that with retirement, the proportion of time spent in active behaviors decreases, especially in moderate-to-vigorous physical activity. Occupation plays an important role in this change, with manual workers and non-manual workers making different adjustments to their movement behaviors after retirement.
INTERNATIONAL JOURNAL OF BEHAVIORAL NUTRITION AND PHYSICAL ACTIVITY
(2022)
Article
Medicine, General & Internal
Lauri Alanko, Jari A. Laukkanen, Mirva Rottensteiner, Salla Rasmus, Tero Kuha, Maarit Valtonen, Urho M. Kujala
Summary: Physical exercise has various health-promoting effects, but it is not comprehensively used as a treatment component in healthcare.
POSTGRADUATE MEDICINE
(2023)
Article
Sport Sciences
Tuija Leskinen, Valeria Lima Passos, Pieter C. Dagnelie, Hans H. C. M. Savelberg, Bastiaan E. De Galan, Simone J. P. M. Eussen, Coen D. A. Stehouwer, Sari Stenholm, Annemarie Koster
Summary: This study aimed to identify physical activity patterns and their association with cardiometabolic biomarkers. The results showed that individuals who engaged in moderate to high levels of physical activity daily had the most favorable cardiometabolic profile.
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2023)
Article
Health Care Sciences & Services
Miika Tuominen, Pasi Koski, Anna Axelin, Sari Stenholm, Tuija Leskinen
Summary: This study evaluated the experiences of participants in a 12-month activity tracker-driven physical activity intervention. It found that activity trackers are cost-effective and acceptable tools for promoting physical activity among older adults in the short-term. However, long-term studies on participants' experiences are still lacking.
Article
Endocrinology & Metabolism
Kristin Suorsa, Nidhi Gupta, Tuija Leskinen, Lars L. Andersen, Jesse Pasanen, Pasan Hettiarachchi, Peter J. Johansson, Jaana Pentti, Jussi Vahtera, Sari Stenholm
Summary: This study investigates the longitudinal associations between changes in 24-h movement behaviors and BMI and waist circumference during the transition from work to retirement. The results indicate that increasing moderate-to-vigorous physical activity is associated with a decrease in BMI and waist circumference, while increasing sleep is associated with an increase in BMI. Therefore, common life transitions like retirement should be taken into consideration when giving recommendations for physical activity and sleep.
INTERNATIONAL JOURNAL OF OBESITY
(2023)
Article
Endocrinology & Metabolism
Jari E. Karppinen, Petri Wiklund, Johanna K. Ihalainen, Hanna-Kaarina Juppi, Ville Isola, Matti Hyvarinen, Essi K. Ahokas, Urho M. Kujala, Jari Laukkanen, Juha J. Hulmi, Juha P. Ahtiainen, Sulin Cheng, Eija K. Laakkonen
Summary: It is uncertain whether aging before late adulthood and menopause are associated with fat-free mass and fat mass-adjusted resting energy expenditure (REEadj). This study found that there is a significant difference in REEadj between middle-aged and younger women, as well as between middle-aged women with different menopausal statuses. The study also demonstrated that menopause may not contribute to the decline in REEadj in women.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Sport Sciences
Antti Lopponen, Christophe Delecluse, Kristin Suorsa, Laura Karavirta, Tuija Leskinen, Lien Meulemans, Erja Portegijs, Taija Finni, Taina Rantanen, Sari Stenholm, Timo Rantalainen, Evelien Van Roie
Summary: The study investigated the association between laboratory-based sit-to-stand (STS) capacity and free-living STS performance. The results showed a moderate association between the two, but they are not interchangeable and provide complementary information. Older and low-functioning individuals seemed to perform free-living STS movements closer to their maximal capacity compared to younger and high-functioning individuals. This suggests that low capacity may limit free-living performance.
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2023)
Article
Public, Environmental & Occupational Health
S. Pasanen, J. I. Halonen, K. Suorsa, T. Leskinen, Y. Kestens, B. Thierry, J. Pentti, J. Vahtera, S. Stenholm
Summary: We investigated how work-related and commuting physical activity, measured by GPS and accelerometer, influenced changes in physical activity and sedentary behavior during retirement transition. Lower work-related activity was linked to a decrease in sedentary time and an increase in light physical activity during retirement. Conversely, higher work-related activity was associated with an increase in sedentary time and a decrease in light physical activity, except for active workers who also engaged in commuting activity. Therefore, both work-related and commuting physical activity predicted changes in physical activity and sedentary behavior upon retirement.
Review
Medicine, General & Internal
G. David Batty, Philipp Frank, Urho M. Kujala, Seppo J. Sarna, Jaakko Kaprio
Summary: This study quantified the occurrence of depression and suicide in retired athletes compared to the general population. The results showed that former boxers, Olympic-style wrestlers, and soccer players did not have statistically higher rates of major depressive disorder or suicide. Retired soccer players had a lower rate of depression and former American football players had a lower risk of suicide compared to the control groups.
Article
Public, Environmental & Occupational Health
Niko Paavo Tynkkynen, Timo Tormakangas, Teemu Palviainen, Matti Hyvarinen, Marie Klevjer, Laura Joensuu, Urho Kujala, Jaakko Kaprio, Anja Bye, Elina Sillanpaa
Summary: There may be genetic factors underlying the associations between higher levels of physical activity (PA) and better aerobic fitness as well as a lower risk for cardiometabolic diseases (CMDs). The study found that genotypes predisposing to higher PA were associated with greater self-reported PA, healthier cardiometabolic profile, and lower incidence of hypertensive diseases, stroke, and type 2 diabetes.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Sport Sciences
Kristin Suorsa, Tuija Leskinen, Suvi Rovio, Harri Niinikoski, Jaana Pentti, Jaakko Nevalainen, Olli J. Heinonen, Hanna Lagstrom, Antti Jula, Jorma Viikari, Tapani Ronnemaa, Olli Raitakari, Sari Stenholm, Katja Pahkala
Summary: This study aimed to investigate weekday and weekend physical activity patterns among young adults and examine the correlates of these patterns. The results showed significant heterogeneity in physical activity patterns across the week among young adults. Adolescent leisure time physical activity was associated with physical activity patterns in young adulthood, and women were more likely to belong in the more physically active groups. Education, work status, and occupation were also associated with different physical activity patterns.
SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS
(2023)
Article
Sport Sciences
Perttu T. T. Laakso, Francisco B. Ortega, Pertti Huotari, Asko J. Tolvanen, Urho M. Kujala, Timo T. Jaakkola
Summary: This study examines the associations between adolescent fitness levels and middle-aged cardiometabolic disease risk, specifically focusing on cardiorespiratory fitness. The findings suggest that improving fitness levels during adolescence may be beneficial in preventing cardiometabolic diseases in adulthood.
SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS
(2023)
Review
Medicine, General & Internal
G. David Batty, Philipp Frank, Urho M. Kujala, Seppo J. Sarna, Carlos A. Valencia-Hernandez, Jaakko Kaprio
Summary: This study found that retired amateur athletes have a higher risk of dementia compared to the general population, with professional boxers having the highest risk. Retired wrestlers and soccer players also have an increased risk, although lower in magnitude. Furthermore, professional American football players may have a higher risk compared to amateurs.
Article
Sport Sciences
Suvi Ravi, Maarit Valtonen, Johanna K. Ihalainen, Elina Holopainen, Silja Kosola, Saara Heinonen, Ben Waller, Urho M. Kujala, Jari Parkkari
Summary: This study compared the differences in menstrual and pubertal history and trends in eating behaviors between women with and without a competitive sports background and investigated the associations between menstrual history and eating behaviors with sports career-related factors. The results showed that athletes reported higher rates of delayed puberty and menstrual dysfunction than controls, but there were no differences in eating disorder scores between the groups. Previous disordered eating was associated with current disordered eating in both groups. Higher eating disorder scores during the sports career were associated with a shorter career. Secondary amenorrhea was associated with lower participation level, injury-related harms, and career termination due to injury.
BMJ OPEN SPORT & EXERCISE MEDICINE
(2023)
