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
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
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)
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)
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)
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
Chemistry, Applied
Nurit Argov-Argaman, Tzach Glasser, Hussein Muklada, Oren Hadaya, Ronit Mesilati-Stahy, Chen Raz, Serge Yan Landau
Summary: This study investigated the effects of different feeding treatments and processing methods on the lipidome components in milk from dairy goats. Results showed that grazing goats had higher fat content and lower phospholipid content, with pasteurization reducing the phospholipid-to-triglyceride ratio. Sensitivity of phospholipid composition to pasteurization varied between feeding treatments.
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
Multidisciplinary Sciences
John Z. Chan, Maria F. Fernandes, Klaudia E. Steckel, Ryan M. Bradley, Ashkan Hashemi, Mishi R. Groh, German Sciaini, Ken D. Stark, Robin E. Duncan
Summary: This study compared the growth characteristics and mitochondrial morphology of lymphoblast cell lines from Barth syndrome (BTHS) patients and healthy controls, and evaluated the therapeutic potential of OEA and LEA. The findings showed that BTHS lymphoblasts grew more slowly and had abnormal mitochondrial morphology, while treatment with OEA partially restored mitochondrial function. These results suggest that mitochondrial dynamics play an important role in the pathology and treatment of BTHS.
SCIENTIFIC REPORTS
(2022)
Article
Endocrinology & Metabolism
Laura K. Cole, Prasoon Agarwal, Christine A. Doucette, Mario Fonseca, Bo Xiang, Genevieve C. Sparagna, Nivedita Seshadri, Marilyne Vandel, Vernon W. Dolinsky, Grant M. Hatch
Summary: The study revealed that deficiency of TAZ in pancreatic islets leads to reduced cellular respiration and insulin secretion, as well as decreased mitochondrial oxygen consumption and alterations in CL species and content. Additionally, TAZ deficiency in islets resulted in significant changes in RNA transcription related to pancreatic fibrosis.
Article
Pediatrics
Nicola Tovaglieri, Silvia Russo, Emanuele Micaglio, Angela Corcelli, Simona Lobasso
Summary: This case report highlights the underestimation of Barth syndrome and emphasizes the importance of considering it in the differential diagnosis of male patients with recurrent neutropenia and possible symptoms of cardiomyopathy.
FRONTIERS IN PEDIATRICS
(2023)
Article
Cell Biology
Haruhiko Sakiyama, Lan Li, Sachi Kuwahara-Otani, Tsutomu Nakagawa, Hironobu Eguchi, Daisaku Yoshihara, Masakazu Shinohara, Noriko Fujiwara, Keiichiro Suzuki
Summary: ChREBP is a glucose-responsive transcription factor that regulates gene expression in the liver, converting excess carbohydrates into storage fat. ChREBP knockout mice display an anti-obesity phenotype, with alterations in electron transport system proteins and mitochondrial structure in their brown adipose tissue. The study clarifies the new role of ChREBP in adipose tissue and its involvement in mitochondrial function, which could potentially improve obesity management.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2021)
Article
Biotechnology & Applied Microbiology
Xilin Ning, Xiaohui Wang, Zheyun Guan, Yan Gu, Chunsheng Wu, Wenhe Hu
Summary: The study found that deep ploughing and returning of straw can effectively enhance the microbial activity, enzyme activity, and grain yield in the soil, with more pronounced effects in the 20-40 cm subsoil layer.
Article
Biochemistry & Molecular Biology
Chenchen Bian, Xiangtong Yuan, Caihong Zeng, Jian Sun, Gen Kaneko, Hong Ji
Summary: This study investigated the mechanism of docosahexaenoic acid (DHA)-induced apoptosis mediated by mitophagy, using grass carp as an animal model. The results showed that inhibition of mitophagy alleviated apoptosis and eliminated the inhibition of lipid accumulation induced by DHA. Mechanistically, DHA induced mitophagy by activating the PPAR gamma-LC3-BNIP3 pathway. Inhibition of PPAR gamma decreased autophagy-related gene expression and prevented BNIP3/NIX-mediated mitophagy-induced apoptosis, thereby alleviating the inhibition of lipid accumulation.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
(2024)
Article
Biochemistry & Molecular Biology
Venkatesan Ramya, Karuppiah Prakash Shyam, Arulanandu Angelmary, Balamuthu Kadalmani
Summary: This study reveals that Lauric acid (LA) exerts an epigenetic regulation and metabolic reprogramming on SH-SY5Y neuroblastoma cells through modulation of lncRNA HOTAIR, remodeling of chromatin H3K4 tri-methylation and regulation of glucose uptake by controlling NF-kappa B activation.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
(2024)
Article
Biochemistry & Molecular Biology
Sreelekshmi Sreekumar, Karyath Palliyath Gangaraj, Manikantan Syamala Kiran
Summary: This study investigates the intricate interplay between angiogenic regulation and the browning of white adipocytes. The findings reveal that concurrent activation of angiogenesis is necessary for inducing browning of white adipocytes. The study also highlights the role of Vascular endothelial growth factor (VEGF) in promoting angiogenesis and triggering the browning process through the activation of Estrogen receptor alpha (ER alpha) signaling pathway.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
(2024)
Article
Biochemistry & Molecular Biology
Zanxia Cao, Liling Zhao, Mingcui Chen, Zhihong Shi, Lei Liu
Summary: This study investigated the translocation process of cholesterol/calcitriol in bacterial membranes and their effects on membrane structure. Calcitriol facilitated water transport across the membrane, while cholesterol had the opposite effect. These findings contribute to a better understanding of the relationship between cholesterol/calcitriol concentrations, lipid bilayer structure, and water permeation.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
(2024)
Article
Biochemistry & Molecular Biology
Xiaozhen Guo, Jiawen Wang, Hualing Xu, Yangyang Wang, Yutang Cao, Yingquan Wen, Jiaqi Li, Yameng Liu, Kanglong Wang, Jue Wang, Xianchun Zhong, Chuying Sun, Yongxin Zhang, Jingyi Xu, Cuina Li, Pengxiang Mu, Lingyan Xu, Cen Xie
Summary: This study aims to investigate the role of the gut microbiota-bile acid axis in regulating the diurnal rhythms of metabolic homeostasis and assess the impact of obesity on them. The results show that high fat diet feeding and Leptin gene deficiency disrupt the rhythmic patterns of insulin sensitivity and serum total cholesterol levels. The study provides compelling evidence for the association between diurnal rhythm of insulin sensitivity and gut microbiota-bile acid axis, and elucidates the deleterious effects of obesity on gut microbiome-bile acid metabolism.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
(2024)
Article
Biochemistry & Molecular Biology
Giuseppe Pepe, Maria Cotugno, Federico Marracino, Luca Capocci, Ludovica Pizzati, Maurizio Forte, Rosita Stanzione, Pamela Scarselli, Alba Di Pardo, Sebastiano Sciarretta, Massimo Volpe, Speranza Rubattu, Vittorio Maglione
Summary: The study found that enzymes involved in sphingolipid metabolism show abnormal expression in the cardiac tissue of hypertensive rat models, which may be related to the susceptibility to cardiac damage.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
(2024)