Article
Endocrinology & Metabolism
Wedad Fallatah, Monica Schouten, Christine Yergeau, Erminia Di Pietro, Marc Engelen, Hans R. Waterham, Bwee Tien Poll-The, Nancy Braverman
Summary: Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders caused by defects in genes encoding peroxisomal proteins required for plasmalogen biosynthesis. The severity of the disease correlates with erythrocyte plasmalogen levels, with almost undetectable levels in severe cases. Residual plasmalogen levels in milder forms are associated with better growth and development.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer, Wedad Fallatah, Mireia Perera-Gonzalez, Ouafa Hamza, Theresa Koenig, Michael B. Bober, Tiscar Cavalle-Garrido, Nancy E. Braverman, Sonja Forss-Petter, Christian Pifl, Jan Bauer, Reginald E. Bittner, Thomas H. Helbich, Bruno K. Podesser, Hannes Todt, Johannes Berger
Summary: The deficiency in ether lipids can cause severe symptoms in humans and the mouse model has been used to study the pathophysiology of the disease. However, the exact role of ether lipids in the cardiac tissue is still unknown. This study found that ether lipid deficiency can lead to cardiac abnormalities in both mice and human patients, but the manifestations are heterogeneous and differ between the two.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Tarik Luisman, Tara Smith, Shawn Ritchie, Karen E. Malone
Summary: The study developed an RCDP incidence and prevalence model based on large-scale genetic diversity datasets, estimating the number of RCDP patients in the US and five largest European countries to be between 516 and 847, with PEX7 variants expected to contribute to the majority of cases. The model could help guide disease awareness and diagnosis efforts for this specific patient group.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Cell Biology
Wedad Fallatah, Wei Cui, Erminia Di Pietro, Grace T. Carter, Brittany Pounder, Fabian Dorninger, Christian Pifl, Ann B. Moser, Johannes Berger, Nancy E. Braverman
Summary: This study demonstrates a genotype-phenotype correlation between the severity of Pex7 deficiency and clinical and neurobiochemical phenotypes in RCDP1 mouse models. The accumulation of peroxisomal plasmalogen may be the cause of cerebellar atrophy in older RCDP1 patients, and there is an interrelation between plasmalogen levels, brain neurotransmitter deficiencies, and the neurobehavioral phenotype.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Adalgisa Cordisco, Elisabetta Pelo, Mariarosaria Di Tommaso, Roberto Biagiotti
Summary: Rhizomelic chondrodysplasia punctata (RCDP) is a rare disease with severe clinical manifestations and poor prognosis. This study identified new prenatal ultrasound findings and discovered a novel mutation in GNPAT, providing new evidence for the genetic mechanism of the disease.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Chemistry, Analytical
Molly S. Blevins, Samuel W. J. Shields, Wei Cui, Wedad Fallatah, Ann B. Moser, Nancy E. Braverman, Jennifer S. Brodbelt
Summary: Ether glycerophospholipids (GP) have significant biological impact in peroxisomal disorders and other diseases, making them important biomarkers for diagnostic assays or deciphering pathology. However, their detailed characterization is challenging due to their unique linkage and isomeric nature. In this study, 213 nm ultraviolet photodissociation mass spectrometry (UVPDMS) was used to characterize plasmenyl and plasmanyl lipids in mouse brain tissue. The method successfully differentiated these ether lipid subtypes for the first time and allowed for the characterization and relative quantitation of ether lipids from normal and diseased mouse brain tissue.
ANALYTICAL CHEMISTRY
(2022)
Article
Medicine, General & Internal
Aiman M. Shawli, Abdulaziz T. Nazer, Yasir Khayyat, Mohammed G. Alqurashi, Fahad Hakami
Summary: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal autosomal recessive disorder characterized by skeletal abnormalities and intellectual disabilities. A 16-day-old girl with dysmorphic features was diagnosed with RCDP type 3 in Saudi Arabia. Early diagnosis and holistic management are essential for this distressing condition.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Yukio Fujiki, Kanji Okumoto, Masanori Honsho, Yuichi Abe
Summary: Peroxisomes play crucial roles in cell metabolism and their dysfunction leads to various disorders; their involvement in oxidative stress response and cell division processes is increasingly understood; communication between peroxisomes and other organelles influences overall cell development and function.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
(2022)
Article
Medicine, Research & Experimental
Joshua A. Lee, Krupa R. Patel, Alyssa J. Smith, Dana M. Thompson
Summary: Chondrodysplasia punctata (CDP) is a rare congenital syndrome characterized by abnormal deposition of calcium during bone formation, resulting in radiographic findings of epiphyseal stippling. In addition to common otolaryngologic manifestations such as hypoplasia and hearing loss, tracheobronchial calcification in neonates with CDP is rare. The management of CDP-related airway stenosis is complex and there is limited literature on outcomes of airway interventions. This study describes the clinical course and outcome of tracheal dilation in a newborn patient with CDP.
Review
Genetics & Heredity
Ezgi Gokpinar Ili, Alper Gezdirici, Erminia Di Pietro, Christine Yergeau, Nancy Braverman
Summary: Rhizomelic chondrodysplasia punctata (RCDP) is a group of peroxisomal disorders caused by plasmalogen synthesis defects. Patients with RCDP present with various clinical features including short stature, epiphyseal calcifications, cataracts, and intellectual disability. This study reports two new patients with RCDP3 and their novel AGPS gene variants.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Review
Biochemistry & Molecular Biology
Delara Akhter, Yuchan Zhang, Jianping Hu, Ronghui Pan
Summary: Protein ubiquitination plays a crucial role in regulating diverse cellular processes in eukaryotic organisms, including growth, development, and stress response. Despite its importance, the mechanisms underlying protein ubiquitination in peroxisomes, especially in plants, are poorly understood. This review provides a comprehensive summary of the current knowledge on the involvement of protein ubiquitination in peroxisome biology, focusing on plants.
JOURNAL OF INTEGRATIVE PLANT BIOLOGY
(2023)
Article
Neurosciences
Masanori Honsho, Yukio Fujiki
Summary: Plasmalogens are cellular glycerophospholipids with a vinyl-ether bond, synthesized in peroxisomes and endoplasmic reticulum. Deficiency in plasmalogens indicates the importance of de novo synthesis in plasmalogen homeostasis. The regulation of plasmalogen biosynthesis is controlled by a feedback mechanism that senses plasmalogen levels in the inner leaflet of the plasma membrane. Dysregulation of plasmalogen synthesis impairs cholesterol synthesis and affects gene expression, resulting in pathogenesis in rodents and humans.
BRAIN RESEARCH BULLETIN
(2023)
Article
Biochemistry & Molecular Biology
Jinghui Song, Liting Dong, Hanxiao Sun, Nan Luo, Qiang Huang, Kai Li, Xiaowen Shen, Zhe Jiang, Zhicong Lv, Luxin Peng, Meifang Zhang, Kun Wang, Ke Liu, Jiaxu Hong, Chengqi Yi
Summary: Researchers have developed a programmable RNA base editor called RESTART to reverse premature translation termination caused by nonsense mutations. RESTART utilizes an engineered guide snoRNA and the endogenous H/ACA box snoRNP machinery to achieve precise pseudouridylation, enabling functional PTC readthrough in disease-relevant contexts. The tool also demonstrates robust pseudouridylation in primary cells.
Article
Genetics & Heredity
Hans R. Waterham, Janet Koster, Merel S. Ebberink, Pavel Jesina, Jiri Zeman, Lenka Noskova, Stanislav Kmoch, Perrine Devic, David Cheillan, Ronald J. A. Wanders, Sacha Ferdinandusse
Summary: We report two unrelated patients with autosomal dominant Zellweger spectrum disorders (ZSDs). Biochemical and genetic studies revealed single heterozygous de novo variants in the PEX14 genes of both patients, leading to mRNA mis-splicing and expression of truncated PEX14 proteins. Functional studies demonstrated the dominant-negative effect of these truncated proteins on peroxisome functioning, which was restored by inhibition of pexophagy.
GENETICS IN MEDICINE
(2023)
Review
Surgery
Adeline Kerbrat, Joel Ferri
Summary: Binder syndrome is a rare congenital malformation of the midface, and there is currently no optimal surgical treatment plan. The etiology of the condition is also uncertain.
JOURNAL OF CRANIOFACIAL SURGERY
(2022)
Article
Medical Laboratory Technology
Jiansheng Lin, Weihua Lin, Yiming Lin, Weilin Peng, Zhenzhu Zheng
Summary: This study retrospectively analyzed the cases of Chinese infants with NICCD and identified multiple genetic mutations. The study also found comorbidity of NICCD and other inborn errors of metabolism in some patients.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Lihua Guan, Wei Su, Jian Zhong, Ling Qiu
Summary: Multiple myeloma is characterized by excessive production of monoclonal immunoglobulins. Routine screening methods are insufficient for detecting low levels of M proteins, but advances in mass spectrometry enable reliable detection of low abundance serum biomarkers for minimal residual disease assessment in multiple myeloma.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Liya Zhu, Chao Zhu, Jialie Jin, Jinxin Wang, Xiaojing Zhao, Rongxi Yang
Summary: This study found an association between blood-based ITGB2 methylation and coronary heart disease (CHD), with hypomethylation of ITGB2 being a risk factor for CHD. Additionally, the combination of ITGB2 methylation and conventional CHD risk factors could efficiently discriminate CHD patients from controls.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
H. Al Habobe, E. B. Haverkort, K. Nazmi, A. P. Van Splunter, R. H. H. Pieters, F. J. Bikker
Summary: Saliva diagnostics have become popular due to their non-invasive nature and patient-friendly collection process. However, the choice of saliva collection method can affect the measured levels of various biomarkers.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Abdurrahman Coskun, Anna Carobene, Ozlem Demirelce, Michele Mussap, Federica Braga, Ebru Sezer, Aasne Karine Aarsand, Sverre Sandberg, Pilar Fernandez Calle, Jorge Diaz-Garzon, Metincan Erkaya, Cihan Coskun, Esila Nur Erol, Hunkar Dag, Bill Bartlett, Mustafa Serteser, Niels Jonker, Ibrahim Unsal
Summary: In this study, BV estimates for 22 AAs were provided based on a large sample size, and it was found that there are differences in CVI estimates between males and females for most AAs, which has implications for the clinical interpretation and use of AAs.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Valentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, Matthew Justyn
Summary: The study of Parkinson's Disease in Asian populations has revealed the impact of genetic variants on multiple biological pathways and highlighted shared genetic susceptibility with other diseases. These findings emphasize the importance of personalized treatment based on individual genetic profiles.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Simona Ferraro, Sara Benedetti, Savina Mannarino, Santica Marcovina, Elia Mario Biganzoli, Gianvincenzo Zuccotti
Summary: Risk stratification for cardio-vascular disease should be implemented in childhood to promote early prevention strategies, as atherosclerotic lesions can be present even in very young individuals. Evaluating pediatric CV risk factors/clinical conditions and conducting lipid profile and genetic testing can help identify children at risk of future CV events and guide appropriate therapeutic options.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Ahmad Mobed, Bita Abdi, Sajjad Masoumi, Mohammad Mikaeili, Elham Shaterian, Hamed Shaterian, Esmat Sadat Kazemi, Mahdiye Shirafkan
Summary: Reproductive biomarkers play important regulatory roles in women. The discovery and quantification of these biomarkers are clinically significant. Various detection strategies, including nanotechnology-based methods, have been developed. This article provides an in-depth introduction to the latest advances in biosensor and nanosensor research for detecting and quantitatively identifying reproductive biomarkers.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Chengfang Tang, Fang Tang, Yanna Cai, Minyi Tan, Sichi Liu, Ting Xie, Xiang Jiang, Yonglan Huang
Summary: This study proposes an effective method for screening X-ALD and evaluates the performance of newborn screening for X-ALD in Guangzhou. The LC-MS/MS method can accurately identify X-ALD through analysis of C26:0-LPC.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Lan Liu, Jiamin Wang, Xijing Liu, Jing Wang, Lin Chen, Hongmei Zhu, Jingqun Mai, Ting Hu, Shanling Liu
Summary: The 16p11.2 deletion is a common genetic cause of neurodevelopmental disorders, with prenatal and postnatal presentations including vertebral malformations and language impairment. The majority of deletions are de novo and may be associated with MAPK3 and histidine-associated metabolism.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Sneha Venkatesalu, Shanmugapriya Dilliyappan, Avanthika Satish Kumar, Thirunavukkarasu Palaniyandi, Gomathy Baskar, Maddaly Ravi, Asha Sivaji
Summary: Microfluidics is a science and technology that deals with less sample-to-more precision in vitro analysis. It has wide applications in cancer theranostics, enabling precise diagnosis and personalized treatment.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Yuanqin Zhao, Wei Deng, Zhaoyue Wang, Yanxia Wang, Hongyu Zheng, Kun Zhou, Qian Xu, Le Bai, Huiting Liu, Zhong Ren, Zhisheng Jiang
Summary: The cardiovascular system and the central nervous system exhibit a coordinated developmental process during embryonic development. Congenital heart disease (CHD) is the most common congenital disorder, and neurodevelopmental disorders (NDD) are common complications in CHD patients. Both genetic and non-genetic factors contribute to the co-occurrence of CHD and NDD. Further research should focus on identifying common molecular mechanisms underlying this co-occurrence and promoting the research and treatment of developmental disorders related to the cardiovascular and central nervous systems.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Karol Gostomczyk, Ewelina Lukaszewska, Jedrzej Borowczak, Anita Bator, Marek Zdrenka, Magdalena Bodnar, Lukasz Szylberg
Summary: Flow cytometry improves the detection of epithelial cancer cells in peritoneal and pleural fluids compared to conventional cytology. Due to similar speciflcity and higher sensitivity, flow cytometry offers a promising alternative to cytology for patient screening.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Heping Tian, Genghuan Wang, Qi Zhong, Haihang Zhou
Summary: This study found that the decline of serum ITIH4 concentrations during the early phase after aneurysmal subarachnoid hemorrhage (aSAH) was closely related to the severity and poor prognosis of the disease. Serum ITIH4 may represent a promising prognostic biomarker of aSAH.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Xueting Zhu, Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua Luo, Lu Zheng
Summary: This study successfully established a 2D-PCR method for identifying HLA-B*15:02 through a two-tube reaction. This method can distinguish HLA-B*15:02 from 16 highly homologous HLA-B*15 alleles. Among 1830 samples from the clinical general population, 3 HLA-B*15:02 homozygotes and 84 HLA-B*15:02 heterozygotes were detected.
CLINICA CHIMICA ACTA
(2024)