Editorial Material
Endocrinology & Metabolism
Barry Wolf
Summary: This commentary aims to address the issues surrounding the administration of biotin to children with biotin-responsive disorders, providing guidance for healthcare workers, parents, and patients.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Genetics & Heredity
Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lianshu Han
Summary: This study characterized the clinical, biochemical, and molecular features of Chinese patients with holocarboxylase synthetase (HLCS) deficiency and investigated the mutation spectrum and potential correlation with phenotype. The findings expanded the spectrum of phenotypes and genotypes for HLCS deficiency in Chinese populations and suggested that with timely biotin therapy, patients with HLCS deficiency showed low mortality and optimistic prognosis. Newborn screening is crucial for early diagnosis, treatment, and long-term outcomes.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Endocrinology & Metabolism
Cheng Tong, Yue Wu, Zhenchao Zhuang, Zhejiong Wang, Ying Yu
Summary: Proteomics technology is important for exploring unknown areas and disease pathogenesis, but there are fewer studies on constructing clinical models using proteomics markers.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Multidisciplinary Sciences
Irene Santos-Barriopedro, Guido van Mierlo, Michiel Vermeulen
Summary: Proximity biotinylation is a powerful tool for profiling interactomes, which can be directed to target proteins using genetic engineering and antibodies, enabling identification of endogenous proteins or PTMs in interactomes.
NATURE COMMUNICATIONS
(2021)
Article
Medicine, Research & Experimental
Jose Luis Garcia-Gimenez, Eva Garcia-Lopez, Salvador Mena-Molla, Jesus Beltran-Garcia, Rebeca Osca-Verdegal, Elena Nacher-Sendra, Carmen Aguado-Velasco, German Casabo-Valles, Carlos Roma-Mateo, Maria Rodriguez-Gimillo, Oreto Antunez, Jose Ferreres, Federico V. Pallardo, Nieves Carbonell
Summary: This study validates a quantitative mass spectrometry method to measure circulating histone levels in plasma samples for the diagnosis and prognosis of sepsis and septic shock patients. In an extended laboratory testing, it was found that circulating histone levels are associated with the severity of patient conditions and can predict fatal outcomes.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Biochemical Research Methods
Connor C. Long, Aleksandra Antevska, David H. Mast, Samuel Okyem, Jonathan V. Sweedler, Thanh D. Do
Summary: This study uses two ion mobility spectrometry-mass spectrometry (IMSMS) modalities, DT-IMS and TIMS, to characterize three nonenzymatic PTMs: L/D isomerization, aspartate/isoaspartate isomerization, and cis/trans proline isomerization. These PTMs are assessed in a single peptide system and their effects on peptide cleavage and fragmentation are evaluated.
JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY
(2023)
Article
Biochemistry & Molecular Biology
Oleg Tutanov, Aleksei Shefer, Yuri Tsentalovich, Svetlana Tamkovich
Summary: Cell-free DNA (cfDNA) is found in the bloodstream either encapsulated in membrane-coated structures or bound to proteins. This study isolated native complexes involved in the formation of deoxyribonucleoprotein complexes from the plasma of healthy females and breast cancer patients. It was found that the composition and expression of proteins in blood-circulating NPCs differed between healthy females and breast cancer patients, suggesting their potential use as diagnostic or prognostic biomarkers for breast cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Siraprapa Siritutsoontorn, Witchuda Sukjoi, Steven W. Polyak, Chareeporn Akekawatchai, Sarawut Jitrapakdee
Summary: HLCS plays a crucial role in breast cancer growth and migration by promoting the biotinylation of carboxylases. Depletion of biotin or reduced expression of HLCS inhibits cell proliferation and migration, leading to apoptosis in breast cancer cells.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Miyu Meguro, Yoichi Wada, Yurina Kisou, Chihiro Sugawara, Yoshihiro Akimoto, Shigeo Kure
Summary: This report presents the case of a woman with HSD who had an uncomplicated pregnancy and childbirth while regularly taking a high pharmacological dose of biotin (100 mg/day), which did not have a negative impact on the fetus. Further research and case studies on pregnant women with HSD are needed to determine an acceptable maximum dosage of biotin for human fetuses.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Article
Biochemical Research Methods
Taran Driver, Ruediger Pipkorn, Vitali Averbukh, Leszek J. J. Frasinski, Jon P. P. Marangos, Marina Edelson-Averbukh
Summary: Combinatorial post-translational modifications (PTMs), such as the histone code, have been linked to various biological processes. However, analyzing combinatorial isomers using standard mass spectrometry is challenging due to incomplete information. In this study, we introduce a 2D-PC-MS marker ion correlation approach, which reveals fragment-fragment correlations and allows for the identification of combinatorially modified isomers. Our results show that this approach enables the identification of significantly more combinatorially modified peptides compared to standard MS methods.
JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY
(2023)
Article
Cell Biology
Abigail S. Krall, Peter J. Mullen, Felicia Surjono, Milica Momcilovic, Ernst W. Schmid, Christopher J. Halbrook, Apisadaporn Thambundit, Steven D. Mittelman, Costas A. Lyssiotis, David B. Shackelford, Simon R. Knott, Heather R. Christofk
Summary: Mitochondrial respiration is essential for cell proliferation by generating biosynthetic precursors like aspartate. Inhibition of electron transport chain can deplete aspartate and impair ATF4 and mTORC1 activities. Adding exogenous asparagine can restore these activities and promote cell proliferation in the context of ETC inhibition.
Article
Dermatology
Haifei Liu, Ruoqu Wei, Yijun Yang, Zhen Zhang, Yixuan Yang, Jue Tang, Jiawen Chen, Jia Zhang, Yan Gu, Zhirong Yao
Summary: Holocarboxylase synthetase deficiency (HSD) is a rare genetic disorder characterized by metabolic disorders and skin inflammation. This article reports a case of recurrent psoriasis-like skin lesions in a 6-year-old child with HSD, who did not respond to initial biotin therapy but showed improvement after treatment with an IL-17A inhibitor.
JOURNAL OF DERMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Jeehyun Yoon, Oleg Grinchuk, Srinivasaraghavan Kannan, Melgious Jin Yan Ang, Zhenglin Li, Emmy Xue Yun Tay, Ker Zhing Lok, Bernice Woon Li Lee, You Heng Chuah, Kimberly Chia, Roberto Tirado Magallanes, Chenfei Liu, Haonan Zhao, Jin Hui Hor, Jhin Jieh Lim, Touati Benoukraf, Tan Boon Toh, Edward Kai-Hua Chow, Jean-Paul Kovalik, Jianhong Ching, Shi-Yan Ng, Ming Joo Koh, Xiaogang Liu, Chandra Shekhar Verma, Derrick Sek Tong Ong
Summary: The study reveals the dependency of GBM on biotin distribution, suggesting that rational cotargeting of biotin-dependent metabolism and epigenetic pathways may be explored for GSC eradication.
Article
Biochemistry & Molecular Biology
Xuejiao Song, John E. Cronan
Summary: The process of biotin synthesis is metabolically expensive in microorganisms and plants. Current research suggests that YnfK may have DTBS activity, albeit with low activity and poor expression. FNR activates the transcriptional level of ynfK during anaerobic growth, and the ynfK gene is well conserved in gamma-proteobacteria.
MOLECULAR MICROBIOLOGY
(2021)
Article
Medicine, General & Internal
Safia Fatima, Muhammad Aamir, Afshan Bibi
Summary: Multiple carboxylase deficiency organic acidemia is a rare inherited metabolic disorder characterized by a deficiency in biotin as a co-enzyme. Diagnosis can be confirmed through biochemical tests and urine organic acid analysis. The case described involved an infant presenting with recurrent seizures, skin rash, and high ammonia levels, along with a family history of similar symptoms resulting in death in a sibling.
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
(2021)