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
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
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
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
Urology & Nephrology
Min Wei, Sijun Meng, Sufang Shi, Lijun Liu, Xujie Zhou, Jicheng Lv, Li Zhu, Hong Zhang
Summary: By evaluating the DNA methylation and gene expression profiles of IgAN-discordant MZ twins, it was found that changes in DNA methylation patterns are involved in the pathogenesis of IgAN. Nine target genes detected in the study may provide new insights into the molecular mechanisms of IgAN.
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.
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
Biochemistry & Molecular Biology
Elena Bresciani, Nicola Squillace, Valentina Orsini, Roberta Piolini, Laura Rizzi, Laura Molteni, Ramona Meanti, Alessandro Soria, Giuseppe Lapadula, Alessandra Bandera, Andrea Gori, Paolo Bonfanti, Robert John Omeljaniuk, Vittorio Locatelli, Antonio Torsello
Summary: The study found that using monozygotic twins as a model can explore potential changes in miRNA regulation in HIV-infected patients after receiving cART treatment. Up-regulation of miRNAs was found to be associated with processes related to metabolism, neurogenesis, and protein phosphorylation in subcutaneous adipose tissue, with differential expression in plasma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Ryan W. Gates, Bryn D. Webb, David A. Stevenson, Ethylin Wang Jabs, Colette Defilippo, Maura R. Z. Ruzhnikov, Christina G. Tise
Summary: Moebius syndrome is a congenital disorder characterized by nonprogressive palsies of cranial nerves VI and VII, resulting in facial weakness and inability to abduct the eye(s). The etiology of Moebius syndrome is still unclear, as most cases are sporadic and do not have a known genetic cause.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
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
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
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
Biochemistry & Molecular Biology
Qiyang Li, Zhongju Wang, Lu Zong, Linyan Ye, Junping Ye, Haiyan Ou, Tingyun Jiang, Bo Guo, Qiong Yang, Wenquan Liang, Jian Zhang, Yong Long, Xianzhen Zheng, Yu Hou, Fengchun Wu, Lin Zhou, Shufen Li, Xingbing Huang, Cunyou Zhao
Summary: The study reveals the important role of ASM in non-Mendelian phenotypic variations, mediating dysregulated gene expression and increasing susceptibility to psychiatric disorders. By analyzing genetic variants, it uncovers the genetic and epigenetic interaction manifested by ASM during the onset of psychiatric disorders.
MOLECULAR PSYCHIATRY
(2021)
Review
Multidisciplinary Sciences
Toshikazu Ushijima, Susan J. Clark, Patrick Tan
Summary: Cancer, driven by genomic and epigenomic derangements, requires multimodal data integration to understand the molecular evolution of malignant cell states across its lifecycle. Driver mutations and epigenetic alterations in normal-appearing tissues prompt a reassessment of cancer initiation, while studying clonal selection, epigenomic adaptation, and persister cells in metastasis and therapy resistance is an emerging field. The importance of tumor ecosystems in cancer development is being unveiled by advancing single-cell and spatial technologies.