Article
Genetics & Heredity
Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han
Summary: The study found that different mutations in the MMUT gene are associated with the response to vitamin B12 treatment and also have an impact on the outcomes of healthy/developmental delay.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Olga M. Sokolovskaya, Tanja Plessl, Henry Bailey, Sabrina Mackinnon, Matthias R. Baumgartner, Wyatt W. Yue, D. Sean Froese, Michiko E. Taga
Summary: This study examined the impact of various cobamide cofactors on the function of MMUT and found differences in how they support the enzyme, as well as variations in the catalytic rescue of disease-associated MMUT variants. The findings challenge the sole focus on cobalamin in human physiology, suggesting that diverse cobamides can play a role in supporting human enzyme function.
Article
Pediatrics
Neerja Gupta, Mounika Endrakanti, Meenakshi Bhat, Nivedita Rao, Ravneet Kaur, Madhulika Kabra
Summary: This study investigated the clinical and molecular spectrum of Methylmalonic acidemia (MMA). A retrospective study was conducted on 30 MMA patients to evaluate their phenotype, biochemical abnormalities, genotype, and outcomes. The study found that MMA cblC subtype was the most common type of MMA, and the outcomes of MMA were influenced by the type of molecular defect, age, and severity of presentation.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Review
Endocrinology & Metabolism
Leah E. Venturoni, Charles P. Venditti
Summary: This article reviews pre-clinical studies on alternative approaches to solid organ transplantation as a treatment for MMUT MMA.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Review
Endocrinology & Metabolism
PamelaSara E. Head, Jordan L. Meier, Charles P. Venditti
Summary: Methylmalonic acidemia (MMA) is a severe inborn error of metabolism with limited treatment options. Aberrant acylation has been identified as a characteristic feature of MMA, suggesting that targeting posttranslational modifications may be a new therapeutic approach.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Genetics & Heredity
Sitao Li, Congcong Shi, Yao Cai, Xia Gu, Hui Xiong, Xiaoyu Liu, Yinchun Zhang, Xin Xiao, Fei Ma, Hu Hao
Summary: This study analyzed the differential proteome of serum between isolated MMA patients and healthy controls, and identified 94 differentially expressed proteins (DEPs). The DEPs were mainly associated with immune-related function, membrane protein-related function, lysosome, and cholesterol metabolism pathways. The findings of this study contribute to understanding MMA and may be useful for developing alternative therapies.
FRONTIERS IN GENETICS
(2022)
Article
Medical Laboratory Technology
Mengmeng Du, Shengnan Wu, Chang Su, Xiaohong Wang, Bingbing Li, Yifan Lin, Shuxian Yuan, Yongxing Chen, Changlian Zhu, Haiyan Wei
Summary: This study investigated whether serum Vitamin B12 levels could be used as an early diagnostic biomarker for MMA. The results showed that serum Vitamin B12 levels were significantly increased in MMA patients, and serum Vitamin B12 combined with other biomarkers could be used to distinguish different types of MMA. Additionally, elevated Vitamin B12 was found to be an independent predictor of MMA clinical onset.
CLINICA CHIMICA ACTA
(2023)
Review
Chemistry, Multidisciplinary
Ruma Banerjee, Harsha Gouda, Shubhadra Pillay
Summary: Metals, particularly cobalamins like Vitamin B-12, play a crucial role in the functioning of enzymes in the human body. Genetic studies on cobalamin metabolism disorders have identified key genetic loci and pathways. Understanding the intricate chemistry and coordination involved in B-12 trafficking can provide insights into potential therapeutic interventions for related disorders.
ACCOUNTS OF CHEMICAL RESEARCH
(2021)
Article
Chemistry, Physical
Arghya Pratim Ghosh, Megan J. Toda, Pawel M. Kozlowski
Summary: The study examines the mechanism of how the environment affects the triggering of Co-C-5 bond cleavage in enzymes by calculating the bond dissociation energy. It is found that the presence or absence of substrate does not substantially impact the energy barrier for Co-C-5 bond cleavage, and indicates the crucial role of Tyrosine 105 in facilitating the cleavage of the Co-C-5 bond.
Article
Agriculture, Multidisciplinary
Wang Ma, Jin Li, Wen-Qian Yang, Zi-Yi Zhang, Chun-Xiao Yan, Peng-Wei Huang, Xiao-Man Sun
Summary: This study investigates the production of odd chain fatty acids (OCFAs) by Schizochytrium sp., a microorganism with potential for efficient OCFA production. Different substrates and genetic modifications were used to enhance propionyl-CoA supply and inhibit its consumption, leading to increased OCFA accumulation. A fed-batch co-feeding strategy further improved OCFA production. The findings provide guidance for microbial production of OCFAs.
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2023)
Review
Agriculture, Dairy & Animal Science
C. L. Girard, M. Duplessis
Summary: The rumen microbiota can synthesize sufficient B vitamins to prevent clinical deficiency symptoms in dairy cows. However, subclinical deficiency can lead to reduced metabolic efficiency and lower milk production.
Article
Genetics & Heredity
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Angeles Garcia-Cazorla, Aleix Navarro-Sastre, Rosa Maria Lopez, Silvia Maria Meavilla, Mariela Mercedes de los Santos, Camila Garcia-Volpe, Jose Manuel Gonzalez de Aledo-Castillo, Ana Argudo, Jose Luis Marin, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernandez, Judit Garcia-Villoria, Antonia Ribes
Summary: The study aimed to assess the utility of a second-tier test in newborn screening, finding that levels of MMA and Hcys were higher in acquired vitamin B-12 deficiency, while MCA was mainly present in genetic disorders.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Biochemical Research Methods
Wang Ma, Xin Li, Feng Zhang, Zi-Yi Zhang, Wen-Qian Yang, Peng-Wei Huang, Yang Gu, Xiao-Man Sun
Summary: In this study, propionate wastewater (PW), a widespread industrial and domestic wastewater, was used as a substrate for Schizochytrium sp. to produce docosahexaenoic acid (DHA)-rich lipid. The overexpression of methylmalonyl-CoA mutase (MCM) in Schizochytrium sp. enhanced the metabolism of propionate, allowing the engineered strain to effectively utilize PW. Experiments showed that the engineered strain can completely replace clean water with PW containing 5 g L-1 propionate, and in fed-batch fermentation, it achieved higher biomass and lipid yield compared to the wild type. The overexpression of MCM promoted DHA and lipid accumulation by inducing ATP synthesis and enhancing the antioxidant capacity of cells. PW can thus be considered as an effective and economical substrate and water source for DHA production by Schizochytrium sp.
BIOTECHNOLOGY JOURNAL
(2023)
Article
Medical Laboratory Technology
Anders Abildgaard, Cindy Soendersoe Knudsen, Carsten Schriver Hoejskov, Eva Greibe, Tina Parkner
Summary: This study aimed to establish age-adjusted reference intervals for plasma B12 and serum/plasma MMA in the Danish population. The results showed that the concentrations of B12 and MMA are closely related to age and vary among different age groups. Therefore, it is suggested to use age-dependent cut-off values for screening B12 deficiency.
CLINICA CHIMICA ACTA
(2022)
Review
Food Science & Technology
Marie Joncquel Chevalier-Curt, Guillaume Grzych, Celine Trad, Julien Lannoy, Sylvie Deheul, Riyad Hanafi, Claire Douillard, Joseph Vamecq
Summary: Nitrous oxide (N2O) abuse can result in pathological changes, affecting DNA/RNA/protein methylation and impairing enzyme function related to myelinogenesis and myelopathy. N2O abuse leads to impairment of vitamin-B12-dependent pathways and impacts multiple metabolic pathways, leading to various potential research/laboratory markers.
FOOD AND CHEMICAL TOXICOLOGY
(2022)
Article
Obstetrics & Gynecology
Jonathan L. Hecht, Jaume Ordi, Carla Carrilho, Mamudo R. Ismail, Zsuzsanna K. Zsengeller, S. Ananth Karumanchi, Seymour Rosen
HYPERTENSION IN PREGNANCY
(2017)
Article
Developmental Biology
Melissa Spiel, Saira Salahuddin, Elizabeth Pernicone, Zsuzsanna Zsengeller, Alice Wang, Anna M. Modest, S. Ananth Karumanchi, Jonathan L. Hecht
Article
Gastroenterology & Hepatology
Zoltan V. Varga, Katalin Erdelyi, Janos Paloczi, Resat Cinar, Zsuzsanna K. Zsengeller, Tony Jourdan, Csaba Matyas, Balazs Tamas Nemeth, Adrien Guillot, Xiaogang Xiang, Adam Mehal, Gyoergy Hasko, Isaac E. Stillman, Seymour Rosen, Bin Gao, George Kunos, Pal Pacher
Article
Pathology
Monica Sircar, Ivy A. Rosales, Martin K. Selig, Dihua Xu, Zsuzsanna K. Zsengeller, Isaac E. Stillman, Towia A. Libermann, S. Ananth Karumanchi, Ravi I. Thadhani
AMERICAN JOURNAL OF PATHOLOGY
(2018)
Article
Pathology
Ambart E. Covarrubias, Edouard Lecarpentier, Agnes Lo, Saira Salahuddin, Kathryn J. Gray, S. Ananth Karumanchi, Zsuzsanna K. Zsengeller
AMERICAN JOURNAL OF PATHOLOGY
(2019)
Article
Biotechnology & Applied Microbiology
Anton A. Turanov, Agnes Lo, Matthew R. Hassler, Angela Makris, Ami Ashar-Patel, Julia F. Alterman, Andrew H. Coles, Reka A. Haraszti, Loic Roux, Bruno M. D. C. Godinho, Dimas Echeverria, Suzanne Pears, Jim Iliopoulos, Renuka Shanmugalingam, Robert Ogle, Zsuzsanna K. Zsengeller, Annemarie Hennessy, S. Ananth Karumanchi, Melissa J. Moore, Anastasia Khvorova
NATURE BIOTECHNOLOGY
(2018)
Article
Biochemistry & Molecular Biology
Boxun Zhao, Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao, Harrison Brand, Michael Talkowski, Eunjung Alice Lee, Pankaj B. Agrawal
Summary: This study reports the discovery of a de novo transposon insertion in the SRCAP gene, which causes neurodevelopmental disorders in a 28-year-old female. The insertion is a full-length antisense-oriented SVA insertion and originates from an intron of a highly expressed long non-coding RNA in testis. The insertion results in significant depletion of SRCAP expression and exon skipping.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Lauren A. Biwer, Qing Lu, Jaime Ibarrola, Alec Stepanian, Joshua J. Man, Brigett V. Carvajal, Nicholas D. Camarda, Zsuzsanna Zsengeller, Geraldine Skurnik, Ellen W. Seely, S. Ananth Karumanchi, Iris Z. Jaffe
Summary: Preeclampsia is associated with hypertension and end organ damage, and women exposed to preeclampsia have an increased risk of hypertension after pregnancy. This study found that exposure to sFlt1 during pregnancy leads to enhanced responsiveness of smooth muscle cell mineralocorticoid receptors (SMC-MR) to hypertensive stimuli, contributing to postpartum hypertension. These findings suggest that targeting SMC-MR could be a potential intervention to mitigate cardiovascular risk in women after preeclampsia.
CIRCULATION RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Diana Pintye, Reka Eszter Sziva, Maxim Mastyugin, Marianna Torok, Sonako Jacas, Agnes Lo, Saira Salahuddin, Zsuzsanna K. Zsengeller
Summary: Preeclampsia (PE), a syndrome specific to pregnancy, affects 5-7% of patients and currently has no effective treatment. Early abnormal placental development leads to oxidative stress and release of reactive oxygen species (ROS) in the placenta, resulting in downstream signaling, stabilization of Hypoxia Inducible Factor 1A (HIF1A), and transcription of anti-angiogenic factors sFLT1 and sEng. This study found that the nitroxide-type antioxidant molecule HMP could reduce placental oxidative stress and alleviate PE symptoms in vitro.
Article
Biology
Diana Pintye, Reka E. Sziva, Maxim Mastyugin, Brett C. Young, Sonako Jacas, Marianna Toeroek, Saira Salahuddin, Prakash Jagtap, Garry J. Southan, Zsuzsanna K. Zsengeller
Summary: This study confirmed the validity of targeting redox deficiencies and angiogenic imbalances in preeclampsia for therapeutic intervention. This will have a significant impact on pregnant women affected by preeclampsia and their babies.
Article
Medicine, Research & Experimental
Matthew R. Lynch, Mei T. Tran, Kenneth M. Ralto, Zsuzsanna K. Zsengeller, Vinod Raman, Swati S. Bhasin, Nuo Sun, Xiuying Chen, Daniel Brown, Ilsa I. Rovira, Kensei Taguchi, Craig R. Brooks, Isaac E. Stiliman, Manoj K. Bhasin, Toren Finkel, Samir M. Parikh
Article
Urology & Nephrology
Erika R. Drury, Zsuzsanna K. Zsengeller, Isaac E. Stillman, Eliyahu V. Khankin, Martha Pavlakis, Samir M. Parikh
Article
Obstetrics & Gynecology
Scott A. Shainker, Katelyn Dannheim, Kristin D. Gerson, Dayna Neo, Zsuzsanna K. Zsengeller, Elizabeth Pernicone, S. Ananth Karumanchi, Michele R. Hacker, Jonathan L. Hecht
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2017)
Article
Physiology
Nina D. Paauw, Jaap A. Joles, Frank T. Spradley, Bhavisha Bakrania, Zsuzsanna K. Zsengeller, Arie Franx, Marianne C. Verhaar, Joey P. Granger, A. Titia Lely
AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
(2017)
Article
Urology & Nephrology
Alfred A. Vichot, Zsuzsanna K. Zsengeller, Boris E. Shmukler, Nancy D. Adams, Neera K. Dahl, Seth L. Alper
CLINICAL KIDNEY JOURNAL
(2017)