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
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
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
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
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
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)
Review
Biochemistry & Molecular Biology
Nina Horn, Pernilla Wittung-Stafshede
Summary: Copper is essential for cellular functions, with ATP7A playing a critical role in copper balance. Dysfunction of ATP7A leads to Menkes disease, characterized by copper deficiency and accumulation in different tissues. Studying the roles of copper enzymes in Menkes disease can provide insights into disease mechanisms and improve early diagnosis accuracy.
Article
Genetics & Heredity
Xiang Chen, Libing Yun, Yang Long, Yuxia Sun, Tao Chen
Summary: This study presents the first report of monozygotic twins with discordant phenotypes for NDI caused by a missense variant in the AVPR2 gene. Experimental evidence suggests that this variation is pathogenic. The study also suggests that the development of NDI symptoms is more closely associated with the XCI pattern in urine sediments compared with the XCI pattern in peripheral leukocytes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Multidisciplinary Sciences
Glen E. Duncan, Ally Avery, Jennifer L. M. Thorson, Eric E. Nilsson, Daniel Beck, Michael K. Skinner
Summary: An epigenome-wide association study on monozygotic twins revealed that physical activity can promote systemic epigenetic alterations and impact metabolic risk factors. The study analyzed differences in body mass index, physical activity levels, and neighborhood walkability between twin pairs and identified DNA methylation alterations associated with reduced metabolic parameters. The study also identified genes related to vigorous physical activity, metabolic risk factors, and sex.
SCIENTIFIC REPORTS
(2022)
Article
Biotechnology & Applied Microbiology
Xi Yuan, Jiayu Huang, Li Wen, Boris Novakovic, Mark D. Kilby, Chao Tong, Hongbo Qi, Richard Saffery, Philip N. Baker
Summary: Despite being genetically identical, monozygotic (MZ) twins can have discordant congenital heart disease (CHD) due to in utero environmental factors. This study identified epigenetic variations in cord blood of discordant MZ twins that are associated with CHD. The results revealed specific DNA methylation variations that are biomarkers and potential targets for intervention in CHD.
Article
Biochemistry & Molecular Biology
Mari T. Kaartinen, Anny Hang, Amadou Barry, Mansi Arora, Sini Heinonen, Jesper Lundbom, Antti Hakkarainen, Nina Lundholm, Aila Rissanen, Jaakko Kaprio, Kirsi H. Pietilainen
Summary: This study investigates changes in the matrisome of adipose tissue and adipocytes in human obesity and explores their association with metabolic dysfunction related to type 2 diabetes. The findings reveal the specificity of obesity Dmatrisome, with 130 matrisome genes showing altered expression in adipose tissue and 71 genes in adipocytes. The Dmatrisome in obesity reflects inflammation in hypertrophic adipocytes and remodeling activity in the rest of the tissue resident cells. Additionally, significant associations of novel matrisome genes with obesity are reported.
Article
Multidisciplinary Sciences
Spencer Shawn Moore, Pallavi Mukherji, Ming Leung, Catherine E. Vrentas, Melsa M. Mwanja, Jun Dai
Summary: Myocardial infarction patients had decreased methylation at four specific CpG sites. The association of these sites with cardiovascular disease deaths has not been studied before. An analysis of twin study data revealed a potential association between methylation at one site and cardiovascular disease deaths.
SCIENTIFIC REPORTS
(2022)
Article
Cell Biology
Juan I. Young, Susan Slifer, Jacqueline T. Hecht, Susan H. Blanton
Summary: NSCLP is a common craniofacial birth defect with a complex etiology involving multiple genes and environmental factors. Studies suggest that differential methylation may be one mechanism contributing to NSCLP, highlighting the need for future research on the role of DNA methylation in both familial and sporadic cases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Cell Biology
Ivan N. Vlasov, Anelya Kh. Alieva, Ekaterina V. Novosadova, Elena L. Arsenyeva, Anna V. Rosinskaya, Suzanna A. Partevian, Igor A. Grivennikov, Maria I. Shadrina
Summary: Parkinson's Disease is a severe neurodegenerative disease characterized by a deficiency of the dopaminergic system. While genetic factors play a significant role in the pathogenesis of PD, gene expression changes may also be important. Research suggests that TNF may play a crucial role in PD-related changes, with INHBA, WNT7A, and DKK1 identified as possible downstream effectors of TNF.
Article
Cell Biology
Ekaterina I. Semenova, Ivan N. Vlasov, Suzanna A. Partevian, Anna V. Rosinskaya, Ivan N. Rybolovlev, Petr A. Slominsky, Maria I. Shadrina, Anelya Kh. Alieva
Summary: This study conducted a transcriptome analysis of the peripheral blood of monozygotic twins discordant for Parkinson's disease (PD) and identified circadian behavior as a priority process for further study. The different expression of genes associated with circadian behavior confirms their involvement in PD pathogenesis. Three genes, PTGDS, ADORA2A, and MTA1, were found to have increased expression in PD twins, making them potential candidate genes for the disease.