Article
Clinical Neurology
Kevin Connolly, Mikael Lehoux, Ryan O'Rourke, Benedetta Assetta, Guzide Ayse Erdemir, Jack A. Elias, Chun Geun Lee, Yu-Wen Alvin Huang
Summary: CHI3L1 is a biomarker for early detection of neuroinflammation and disease diagnosis of AD. It is primarily provided by astrocytes in the brain and may play a crucial role in neuroinflammation and neurodegenerative diseases. In peripheral tissues, it is also a master regulator for injury and repair events.
ALZHEIMERS & DEMENTIA
(2023)
Article
Dermatology
Alina Jankowska-Konsur, Magdalena Lyko, Klaudia Rubas, Danuta Nowicka-Suszko, Joanna Maj, Jacek C. Szepietowski
Summary: This study evaluated the serum levels of YKL-40 in patients with Pyoderma gangrenosum (PG) and its correlation with clinicopathological data. The results showed that YKL-40 levels were significantly higher in patients with PG and were positively correlated with IL-6 levels.
ACTA DERMATO-VENEREOLOGICA
(2022)
Article
Biochemistry & Molecular Biology
Ling Wang, Aihua Bao, Ying Zheng, Aying Ma, Yi Wu, Huanxia Shang, Danruo Fang, Suqin Ben
Summary: The study found that YKL-40 is involved in the pathogenesis of asthma, and the use of YKL-40 shRNA can effectively inhibit its gene expression and alleviate eosinophilic airway inflammation, AHR, and airway mucus secretion in a murine asthmatic model. Additionally, YKL-40 gene RNA interference may offer new therapeutic strategies by altering bone marrow signaling molecules in asthma inflammation.
Article
Immunology
Xiaoyan Zeng, Stanley K. K. Cheung, Mengqi Shi, Penelope M. Y. Or, Zhining Li, Julia Y. H. Liu, Wayne L. H. Ho, Tian Liu, Kun Lu, John A. Rudd, Yubing Wang, Andrew M. Chan
Summary: This study found that increased expression of YKL-40 in astrocytes is associated with activated astrocytes in an Alzheimer's disease model. A beta 1-42 upregulates YKL-40 through the PI3-K signaling pathway in primary astrocytes, leading to synaptic degeneration and impaired neuronal function. Knockout of YKL-40 in astrocytes reduces amyloid plaque deposition, attenuates glial activation, reduces neuronal attrition, and restores memory function in symptomatic Alzheimer's disease mice.
JOURNAL OF NEUROINFLAMMATION
(2023)
Review
Medicine, General & Internal
Krzysztof Specjalski, Jan Romantowski, Marek Niedoszytko
Summary: Asthma is a chronic disorder characterized by inflammation and bronchial hyperresponsiveness. Chitinases and chitinase-like proteins (CLPs) have been suggested as potential biomarkers for diagnosing asthma and phenotyping the disease. However, the low specificity of these biomarkers limits their practical application.
FRONTIERS IN MEDICINE
(2023)
Article
Immunology
Sebastian Majewski, Karolina Szewczyk, Hanna Jerczynska, Joanna Milkowska-Dymanowska, Adam J. Bialas, Lukasz Gwadera, Wojciech J. Piotrowski
Summary: Elevated baseline serum CHIT1 activity and YKL-40 concentrations were found in IPF patients compared to control subjects. The study showed that longitudinal stable serum CHIT1 and YKL-40 levels may be associated with antifibrotic treatment response in IPF, with CHIT1 and YKL-40 potentially serving as diagnostic and prognostic biomarkers. Further research is needed to validate these findings.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Pan-Woo Ko, Ho-Won Lee, Myunghoon Lee, Young Chul Youn, SangYun Kim, Jong-Heon Kim, Kyunghun Kang, Kyoungho Suk
Summary: The study suggests that plasma CHI3L1 levels may be useful in differentiating iNPH patients from healthy individuals.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Wiesje Pelkmans, Mahnaz Shekari, Anna Brugulat-Serrat, Gonzalo Sanchez-Benavides, Carolina Minguillon, Karine Fauria, Jose Luis Molinuevo, Oriol Grau-Rivera, Armand Gonzalez Escalante, Gwendlyn Kollmorgen, Margherita Carboni, Nicholas J. Ashton, Henrik Zetterberg, Kaj Blennow, Marc Suarez-Calvet, Juan Domingo Gispert
Summary: We studied the role of biomarkers of reactive astrogliosis in the pathogenic cascade of Alzheimer's disease. Various fluid biomarkers were found to influence the progression of the disease, with GFAP mediating the association between soluble and insoluble Aβ, and YKL-40 partly explaining the association between Aβ and downstream tau pathology and neuronal injury.
ALZHEIMERS & DEMENTIA
(2023)
Article
Medicine, Research & Experimental
Bing Ma, Bedia Akosman, Suchitra Kamle, Chang-Min Lee, Chuan Hua He, Ja Seok Koo, Chun Geun Lee, Jack A. Elias
Summary: Evasion of the immune response is a hallmark of cancer, and CHI3L1 plays a critical role in tumor progression by stimulating the PD-1/PD-L1 axis and other checkpoint molecules. Individual and bispecific antibodies targeting CHI3L1 and PD-1/PD-L1 axis represent a promising therapy for pulmonary metastasis and progression.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Infectious Diseases
Morten Hedetoft, Marco Bo Hansen, Martin Bruun Madsen, Julia Sidenius Johansen, Ole Hyldegaard
Summary: Plasma YKL-40 levels were significantly higher in patients with NSTI compared to controls, and were positively correlated with disease severity and risk of death.
BMC INFECTIOUS DISEASES
(2021)
Article
Cell Biology
Tian Xu, Xiaowei Zheng, Aili Wang, Zhirong Guo, Yonghong Zhang
Summary: The study found that certain variants of the CHI3L1 gene were associated with both YKL-40 levels and the risk of hypertension. Specific genotypes were significantly linked to altered YKL-40 levels and hypertension risk, potentially serving as stable biomarkers for predicting hypertension risk.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2021)
Article
Geriatrics & Gerontology
Ming Tang, Dongyang Zhou, Junhui He, Hongying Bai, Qianqian Li, Hui Xu
Summary: This study investigated the relationship between serum YKL-40 and MMP-9 levels and positive intracranial arterial remodelling in patients with cerebral small vessel disease (CSVD). The results showed that elevated serum YKL-40 and MMP-9 levels are independent risk factors for positive intracranial arterial remodelling and can predict its presence.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Review
Pharmacology & Pharmacy
Suh-Young Lee, Chang-Min Lee, Bing Ma, Suchitra Kamle, Jack A. Elias, Yang Zhou, Chun Geun Lee
Summary: Chitinase 1 (CHIT1) and chitinase 3-like-1 (CHI3L1) play significant roles in the pathogenesis of pulmonary fibrosis. Their dysregulated expression is associated with clinical outcomes in patients. They mainly act in alveolar macrophages to regulate fibroproliferative responses through various cellular processes. Therefore, CHIT1 and CHI3L1 could be potential therapeutic targets for treating pulmonary fibrosis.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Oncology
Jasmin Jo, Martin J. van den Bent, Burt Nabors, Patrick Y. Wen, David Schiff
Summary: For IDH-mutant gliomas, there is still confusion on how to conduct long-term surveillance and imaging follow-up. Existing guidelines do not clearly specify individualized imaging guidelines based on treatment and tumor recurrence. In this study, we review current knowledge and propose recommended MRI surveillance intervals, as well as summarize situations where additional imaging studies may be advisable outside of the specified intervals.
Article
Clinical Neurology
Yanaika S. Hok-A-Hin, Jeroen J. M. Hoozemans, William T. Hu, Dorine Wouters, Jennifer C. Howell, Alberto Rabano, Wiesje M. van der Flier, Yolande A. L. Pijnenburg, Charlotte E. Teunissen, Marta del Campo
Summary: This study analyzed YKL-40 levels in the brain of AD and FTLD patients, indicating that changes in CSF YKL-40 may not reflect changes in YKL-40 within pathological brain areas of AD and FTLD. Interestingly, YKL-40 reactivity was strong in AD cases with classical CAA hallmarks, suggesting a possible relationship between YKL-40, neuroinflammation, and vascular pathology.
ALZHEIMERS RESEARCH & THERAPY
(2022)
Article
Biotechnology & Applied Microbiology
Ieva Golubickaite, Rasa Ugenskiene, Erika Korobeinikova, Jurgita Gudaitiene, Domas Vaitiekus, Lina Poskiene, Elona Juozaityte
Summary: This study investigated the association between single nucleotide variants in POLG and TFAM genes and tumour phenotype and disease outcome in breast cancer patients. Specific genotypes of POLG rs2307441 and rs2072267, as well as TFAM rs3900887, were found to be significantly associated with different tumour characteristics.
Article
Medicine, General & Internal
Aiste Kondrotiene, Albertas Dauksa, Daina Pamedytyte, Mintaute Kazokaite, Aurelija Zvirbliene, Dalia Dauksiene, Vaida Simanaviciene, Raimonda Klimaite, Ieva Golubickaite, Rytis Stakaitis, Valdas Sarauskas, Rasa Verkauskiene, Birute Zilaitiene
Summary: Expressions of miR-21, miR-221, miR-222, and miR-181b are associated with clinicopathological parameters and high expression levels are related to adverse outcomes. Gender and age are identified as independent prognostic factors for patients with papillary thyroid carcinoma.
Article
Medicine, General & Internal
Ieva Golubickaite, Rasa Ugenskiene, Egle Ziliene, Jurgita Beniusyte, Arturas Inciura, Lina Poskiene, Elona Juozaityte
Summary: This study found significant associations between single-nucleotide variants in the POLG gene and tumor phenotype and patient outcome in cervical cancer, suggesting that specific genotypes may affect adenocarcinoma type, disease stage, and tumor size.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Oncology
Nina Morup, Rytis Stakaitis, Ieva Golubickaite, Meritxell Riera, Marlene Danner Dalgaard, Mikkel H. Schierup, Niels Jorgensen, Gedske Daugaard, Anders Juul, Kristian Almstrup
Summary: Testicular cancer is the most common cancer among young men, but rare early diagnosis and notable side effects from invasive tests limit treatment options. Circulating small RNAs have shown potential as testicular tumor markers, but further research is needed to validate their diagnostic capacity. Studies on small RNAs in seminal plasma suggest they could serve as novel biomarkers for diagnosing testicular cancer, highlighting the need for larger validation cohorts.
Article
Medicine, General & Internal
L. Nagirnaja, N. Morup, J. E. Nielsen, R. Stakaitis, I. Golubickaite, M. S. Oud, S. B. Winge, F. Carvalho, K. I. Aston, F. Khani, G. W. van der Heijden, C. J. Marques, N. E. Skakkebaek, E. Rajpert-De Meyts, P. N. Schlegel, N. Jorgensen, J. A. Veltman, A. M. Lopes, D. F. Conrad, K. Almstrup
Summary: Four men of Middle Eastern descent with nonobstructive azoospermia were found to carry mutations in the PNLDC1 gene, leading to abnormal meiosis and spermatogenesis. Testicular histologic findings showed errors in meiosis and spermatogenic arrest in these men, indicating a direct mechanistic effect of faulty piRNA processing on male infertility.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Genetics & Heredity
Margot J. Wyrwoll, Channah M. Gaasbeek, Ieva Golubickaite, Rytis Stakaitis, Manon S. Oud, Liina Nagirnaja, Camille Dion, Emad B. Sindi, Harry G. Leitch, Channa N. Jayasena, Anu Sironen, Ann-Kristin Dicke, Nadja Rotte, Birgit Stallmeyer, Sabine Kliesch, Carlos H. P. Grangeiro, Thais S. F. Araujo, Paul Lasko, Kathleen D'Hauwers, Roos M. Smits, Liliana Ramos, Miguel J. Xavier, Don F. Conrad, Kristian Almstrup, Joris A. Veltman, Frank Tuettelmann, Godfried W. van der Heijden
Summary: FKBP6 variants are associated with male infertility, leading to impaired testicular development and sperm production. Patients with loss-of-function variants in FKBP6 have very few or no sperm in their ejaculate, making them ineligible for assisted reproductive techniques. FKBP6 plays an important role in piRNA biogenesis in humans.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biology
Dovydas Gecys, Arunas Kazlauskas, Emilija Gecyte, Neringa Pauziene, Deimante Kulakauskiene, Indre Lukminaite, Aiste Jekabsone
Summary: This study explores the potential of genetically engineered extracellular vesicles to improve drug delivery in glioblastoma cells. The results show that introducing the RGD ligand significantly increases the internalisation of extracellular vesicles by GBM cells, leading to improved drug delivery efficacy.
Article
Biochemistry & Molecular Biology
Giedrius Steponaitis, Vytautas Kucinskas, Ieva Golubickaite, Kestutis Skauminas, Ausra Saudargiene
Summary: This study aimed to address the issue of classification in glioblastoma research. Two classification models were constructed using different datasets and methods, and their accuracy was validated using RT-qPCR. A glioblastoma classification tool based on a small number of genes was proposed to achieve data comparability between different research groups.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, Joao Goncalves, Christina A. Gurnett, Niels Jorgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O'Bryan, Peter N. Schlegel, Frank Tuettelmann, Joris A. Veltman, Kristian Almstrup, Kenneth Aston, Donald F. Conrad
Summary: In this study, exome-sequencing was conducted on over 1000 clinically diagnosed NOA cases, and a potential recessive Mendelian cause was identified in 20% of the cases. Integration with single-cell RNA sequencing data revealed different molecular subforms of azoospermia genes, including previously unrecognized subforms. This study highlights the importance of studying NOA as an understudied Mendelian disorder and provides a rational basis for understanding the complex genetics of male infertility.
NATURE COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Ieva Golubickaite, Rasa Ugenskiene, Agne Bartnykaite, Lina Poskiene, Aurelija Vegiene, Evaldas Padervinskis, Viktoras Rudzianskas, Elona Juozaityte
Summary: In 2020, there were 878,348 newly reported cases and 444,347 deaths related to head and neck cancer. The study aimed to analyze SNPs in the TFAM and POLG genes in head and neck cancer patients and evaluate their associations with disease characteristics and patient outcomes. Associations were found between TFAM gene SNPs rs11006129 and rs3900887 and patient survival status. The findings suggest that TFAM gene variants may play an important role in head and neck cancer patient survival and could be considered as prognostic biomarkers, but further studies in larger cohorts are needed to confirm these findings.
Meeting Abstract
Biochemistry & Molecular Biology
Godfried W. Van der Heijden, Manon Oud, Rytis Stakaitis, Ieva Golubickaite, Channah Gaasbeek, Nadja Rotte, Sabine Kliesch, Liliana Ramos, Kristian Almstrup, Miguel J. Xavier, Joris A. Veltman, Frank Tuettelmann
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)