Article
Biochemistry & Molecular Biology
I Chu, Ying-Chih Chen, Ruo-Yun Lai, Jui-Fen Chan, Ya-Hui Lee, Maria Balazova, Yuan-Hao Howard Hsu
Summary: The study aims to recover the distorted mitochondrial lipid composition in Barth syndrome and found that supplementing specific lipids can decrease the concentration of monolyso-CL and restore the morphology and structure of mitochondria. Furthermore, the study also reveals the impact of TAZ gene mutation on other genes related to CL metabolism, potentially leading to increased production of MLCL.
Article
Biochemistry & Molecular Biology
Rezlene Bargui, Audrey Solgadi, Florent Dumont, Bastien Prost, Nathalie Vadrot, Anne Filipe, Andrew T. V. Ho, Ana Ferreiro, Maryline Moulin
Summary: Growing evidence suggests that the lipid bilayer plays a critical role in membrane interactions and signal transduction. However, the study of phospholipids in skeletal muscles is limited, despite their association with muscular diseases. In this study, we used mass spectrometry to analyze the phospholipid profiles in the diaphragm of wild type and SelenoN knock-out mice. We found significant differences in phospholipid composition between male and female mice, as well as age-related differences. The absence of SELENON protein resulted in a remodeling of phospholipid content, with distinct patterns observed in males and females. These findings provide insights into the role of phospholipids in muscular diseases and aging.
Article
Biochemistry & Molecular Biology
Lisa-Marie Marschall, Verena Warnsmann, Anja C. Meessen, Timo Loeser, Heinz D. Osiewacz
Summary: The function of mitochondria relies on the ultrastructure of the inner mitochondrial membrane, particularly the cristae. The MICOS complex, along with cardiolipin and ATP synthase, plays a crucial role in this process. Studies using Podospora anserina have shown that manipulating MICOS can alter cristae structure and increase lifespan. The deletion mutants of the Mic60-subcomplex have been found to have changes in phospholipid composition, specifically in cardiolipin, which ultimately affects membrane properties and promotes longevity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Michelle V. Tomczewski, John Z. Z. Chan, Zurie E. Campbell, Douglas Strathdee, Robin E. Duncan
Summary: Barth syndrome (BTHS) is an X-linked mitochondrial disease caused by mutations in the TAZ gene. A mouse model (Taz-KO) with a deficiency in Taz has been generated and characterized, showing reduced viability, lower body weights, and metabolic impairments. The Taz-KO mouse model faithfully recapitulates important aspects of BTHS, providing a valuable tool for studying pathophysiological mechanisms and potential therapies.
Article
Cell Biology
Jun Zhang, Xueling Liu, Jia Nie, Yuguang Shi
Summary: Barth syndrome is an X-linked genetic disorder caused by mutations in the TAFAZZIN gene, leading to cardiolipin depletion and subsequent mitochondrial dysfunction. Research has identified MTORC1 signaling as a potential therapeutic target for BTHS, with restoration of mitophagy showing promise as a novel treatment approach for this debilitating condition.
Review
Genetics & Heredity
Jing Pang, Yutong Bao, Kalia Mitchell-Silbaugh, Jennifer Veevers, Xi Fang
Summary: Barth syndrome is a mitochondrial lipid disorder caused by mutations in the TAZ gene. Cardiomyopathy is a major clinical feature of this syndrome. Recent studies have provided valuable insights into the clinical features, molecular mechanisms, and potential therapeutic approaches for Barth syndrome cardiomyopathy.
Article
Biochemistry & Molecular Biology
Yvonne Wohlfarter, Reiner Eidelpes, Ryan D. Yu, Sabrina Sailer, Jakob Koch, Daniela Karall, Sabine Scholl-Buergi, Albert Amberger, Hauke S. Hillen, Johannes Zschocke, Markus A. Keller
Summary: Multifunctional protein HSD10 has been shown to be involved in disease pathomechanisms. Recent studies have suggested that HSD10 might have phospholipase C-like activity towards cardiolipins, but experimental results have shown no physiologically relevant role of HSD10 in cardiolipid metabolism.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Review
Endocrinology & Metabolism
Carolyn Taylor, Emily S. Rao, Germaine Pierre, Estathia Chronopoulou, Brittany Hornby, Andrea Heyman, Hilary J. Vernon
Summary: Barth Syndrome is a rare X-linked disorder caused by pathogenic variants in the gene TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin. It is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities. Understanding the natural history of Barth Syndrome is crucial for patient management and evaluating the efficacy of emerging therapies.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Review
Endocrinology & Metabolism
Reid Thompson, John Jefferies, Suya Wang, William T. Pu, Clifford Takemoto, Brittany Hornby, Andrea Heyman, Michael T. Chin, Hilary J. Vernon
Summary: Barth Syndrome is a genetic disorder caused by pathogenic variants in the TAFAZZIN gene, which results in symptoms affecting the heart, neutrophils, growth, and skeletal muscles. Current treatment focuses on symptom management and clinical trials are exploring new treatments targeting the mitochondrial pathology of the disease. Future treatments may include enzyme and gene therapies to directly target the defective TAFAZZIN pathway.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Endocrinology & Metabolism
Gregor Oemer, Jakob Koch, Yvonne Wohlfarter, Katharina Lackner, Rita E. M. Gebert, Stephan Geley, Johannes Zschocke, Markus A. Keller
Summary: Tafazzin deficiency in Barth syndrome leads to severe symptoms including cardiomyopathy, neutropenia, myopathy, and short stature, with significant changes in cardiolipin composition. The composition of cardiolipins strongly depends on the surrounding lipid environment, and variations in nutritional lipid pools can affect phospholipid profiles. Future research will focus on the metabolic implications of different lipid states and tafazzin function on cardiolipin and phospholipid homeostasis.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Multidisciplinary Sciences
Chenglong Sun, Anqiang Wang, Yanhe Zhou, Panpan Chen, Xiangyi Wang, Jianpeng Huang, Jiamin Gao, Xiao Wang, Liebo Shu, Jiawei Lu, Wentao Dai, Zhaode Bu, Jiafu Ji, Jiuming He
Summary: This study explores the spatial signature of metabolic remodeling in gastric cancer by integrating mass spectrometry imaging-based spatial metabolomics and lipidomics with microarray-based spatial transcriptomics, allowing for the visualization of metabolic heterogeneity. Mapping tumor metabolic remodeling and its interaction with non-tumor cells improves our understanding of tumor biology and helps in designing advanced therapeutic strategies.
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Hongming Su, Hong Guo, Xiaoxue Qiu, Te-Yueh Lin, Chao Qin, Gail Celio, Peter Yong, Mark Senders, Xianlin Han, David A. Bernlohr, Xiaoli Chen
Summary: The authors find that LCN2 plays a critical role as a phosphatidic acid binding protein in phospholipid acyl chain remodeling and mitochondrial bioenergetics, influencing signaling pathway activation.
NATURE COMMUNICATIONS
(2023)
Article
Cell Biology
Seul Kee Byeon, Madan Gopal Ramarajan, Anil K. Madugundu, Devin Oglesbee, Hilary J. Vernon, Akhilesh Pandey
Summary: The study identified structural diversity in monolysocardiolipins, dilysocardiolipins, and cardiolipin in Barth syndrome, as well as individual species with previously unreported alterations in BTHS. Developing mass spectrometry-based targeted assays for these lipid biomarkers could be crucial for clinical diagnosis of Barth syndrome.
Article
Chemistry, Analytical
Yu He, Binghuan Yuan, Yao Lu, Xia Zhao, Cunsi Shen, Jianjian Ji, Lili Lin, Jianya Xu, Tong Xie, Jinjun Shan
Summary: Cardiolipins and their oxidation products are essential molecules with complex structures that play critical roles in physiological functions. By utilizing mass spectrometry and in-silico libraries, researchers can quickly identify and annotate these molecules, providing a more comprehensive interpretation for lipid species characterization in high-throughput and sensitive nontarget lipidomic studies.
ANALYTICA CHIMICA ACTA
(2021)
Review
Physiology
Tyler Ralph-Epps, Chisom J. Onu, Linh Vo, Michael W. Schmidtke, Anh Le, Miriam L. Greenberg
Summary: Saccharomyces cerevisiae, commonly known as baker's yeast, is extensively studied in science and has been crucial in researching human diseases and lipid-related pathophysiologies. Its contribution to understanding mitochondrial phospholipid cardiolipin and Barth syndrome, as well as its impact on Alzheimer's and Parkinson's diseases, are highlighted in this review.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Raja Narayanasamy, Dandamudi Usharani, Ram Rajasekharan
Summary: This study investigated the role of ABHD16B in lipid metabolism. The overexpression of ABHD16B was found to decrease cellular triacylglycerol levels and increase phospholipid synthesis in yeast cells. Additionally, ABHD16B overexpression led to a reduction in lipid droplets and significant modifications in fatty acid composition. These findings highlight the importance of ABHD16B in lipid homeostasis and provide insights into its regulatory function in cellular lipid metabolism.
CHEMISTRY AND PHYSICS OF LIPIDS
(2024)