Article
Biochemistry & Molecular Biology
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Pedro Ruiz-Sala, Patricia Alcaide, Francisco Arrieta, Mercedes Martinez-Pardo
Summary: The study found that patients with propionic acidemia (PA) generally have a deficiency of coenzyme Q10 (CoQ10), but supplementation with ubiquinol can correct this deficiency. In addition, ubiquinol supplementation can improve mitochondrial function and promote the smooth progress of the Krebs cycle in PA patients. This treatment method has good tolerability and may be used to prevent the chronic complications associated with PA.
Article
Clinical Neurology
Qianmin Chen, Jingwen Zhuang, Ronghua Zuo, Huiwen Zheng, Jingjing Dang, Zhiping Wang
Summary: This study aimed to explore the association between postpartum depression (PPD) and oxytocin (OXT) levels, as well as assess the interaction between peripheral secretion and central release of OXT. The results showed that OXT concentrations in cerebrospinal fluid (CSF), plasma, and saliva were negatively correlated with PPD and could be valuable predictors of PPD. Additionally, OXT concentrations in plasma and saliva were positively correlated with CSF OXT concentrations.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Editorial Material
Clinical Neurology
Lorraine Chishimba Chishimba, Mashina Chomba, Stanley Zimba, Melody Tunsubilege Asukile, Obrie Makai, Deanna R. Saylor
Summary: Neurocognitive decline remains prevalent in HIV infection despite antiretroviral therapy (ART), with a broad differential diagnosis including infectious and non-infectious causes. This case report describes a man with HIV on ART who presented with rapidly progressive dementia in Zambia. Initial empiric treatment was ineffective, leading to a re-evaluation and ultimately discovering the correct diagnosis. The case highlights the stepwise approach to diagnosis in a resource-limited setting with a high burden of HIV infection.
Article
Immunology
Ronald J. Ellis, Ahmed Chenna, Yolanda Lie, Dusica Curanovic, John Winslow, Bin Tang, Christina M. Marra, Leah H. Rubin, David B. Clifford, J. Allen McCutchan, Benjamin B. Gelman, Jessica Robinson-Papp, Christos J. Petropoulos, Scott L. Letendre
Summary: In two independent cohorts, levels of neurofilament light, a marker of axonal degeneration, in blood plasma and cerebrospinal fluid were significantly elevated in people with HIV who demonstrated exam findings of distal sensory polyneuropathy.
CLINICAL INFECTIOUS DISEASES
(2023)
Article
Neurosciences
Maria-Eleftheria Evangelopoulos, Georgios Koutsis, Fotini Boufidou, Manolis Markianos
Summary: Cholesterol levels may be associated with disease characteristics in multiple sclerosis, particularly with demyelination and immune response. This study found lower levels of plasma and cerebrospinal fluid cholesterol in patients with multiple sclerosis. Patients with positive oligoclonal bands had even lower cerebrospinal fluid cholesterol levels, which may be related to disease progression and enhanced humoral immune response.
NEUROBIOLOGY OF DISEASE
(2022)
Article
Medicine, General & Internal
Enrico Ripamonti, Arvid Eden, Staffan Nilsson, Anders Sonnerborg, Henrik Zetterberg, Magnus Gisslen
Summary: This retrospective follow-up study investigates the longitudinal change of plasma neurofilament light (NfL) levels after antiretroviral therapy (ART) initiation in people living with HIV. The results show that plasma NfL levels are higher at baseline and decline faster during the follow-up in patients with CD4(+) count 100 cells/μl or higher. There is no significant correlation between baseline HIV RNA levels, treatment regimen, and sex with plasma NfL levels.
JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Chae Gyu Park, Min Kyung Chu
Summary: Glutamate is implicated in migraine pathogenesis, and altered plasma glutamate levels have been noted in migraine patients. Chronic migraine is associated with higher levels of central sensitization and pain transmission compared to episodic migraine. This study found significantly higher plasma glutamate levels in both episodic and chronic migraine patients compared to controls, with no significant difference between the two migraine subtypes.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Lawrence S. Honig, Min Suk Kang, Annie J. Lee, Dolly Reyes-Dumeyer, Angel Piriz, Belisa Soriano, Yahaira Franco, Zoraida Dominguez Coronado, Patricia Recio, Diones Rivera Mejia, Martin Medrano, Rafael A. Lantigua, Andrew F. Teich, Jeffrey L. Dage, Richard Mayeux
Summary: This study aimed to evaluate validated plasma biomarkers for detecting Alzheimer's disease (AD) among Caribbean Hispanic individuals. The results showed that plasma P-tau181 and P-tau181/A beta 42 measurements could correctly classify whether Caribbean Hispanic individuals had AD, suggesting that plasma biomarkers can improve the detection of preclinical AD among asymptomatic individuals and the specificity of AD diagnosis.
Article
Clinical Neurology
Timo Jan Oberstein, Manuel Alexander Schmidt, Anna Florvaag, Anna-Lena Haas, Eva-Maria Siegmann, Pauline Olm, Janine Utz, Philipp Spitzer, Arnd Doerfler, Piotr Lewczuk, Johannes Kornhuber, Juan Manuel Maler
Summary: In a long-term observational study, it was found that the combination of biomarkers pTau181, A beta 40 and A beta 42 in cerebrospinal fluid (CSF) is not associated with dementia. Individuals with increased levels of CSF-pTau181 without amyloidopathy showed no significant cognitive decline compared to controls.
Article
Neurosciences
Amber Nous, Mandy Melissa Jane Wittens, Yannick Vermeiren, Peter Paul De Deyn, Christine Van Broeckhoven, Guy Nagels, Ilse Smolders, Sebastiaan Engelborghs
Summary: This study aimed to evaluate the correlation between serum melatonin levels and spinal CSF melatonin levels in AD. The results showed a positive correlation between daytime serum melatonin levels and spinal CSF melatonin levels in AD patients, but no correlation was found between daytime melatonin levels and changes in cognitive impairment.
JOURNAL OF ALZHEIMERS DISEASE
(2021)
Article
Medicine, General & Internal
Massimiliano Castellazzi, Caterina Ferri, Sarah Alfiero, Ilenia Lombardo, Michele Laudisi, Ginevra Tecilla, Michela Boni, Stefano Pizzicotti, Enrico Fainardi, Tiziana Bellini, Maura Pugliatti
Summary: The study found that male neurological patients have higher levels of CSF serum-derived proteins, such as albumin and IgG, compared to females. This difference showed varying degrees of agreement between different genders and were positively correlated with age.
Article
Multidisciplinary Sciences
Jungwon Min, Jeremy Rouanet, Alessandra Cadete Martini, Kaoru Nashiro, Hyun Joo Yoo, Shai Porat, Christine Cho, Junxiang Wan, Steve W. W. Cole, Elizabeth Head, Daniel A. A. Nation, Julian F. F. Thayer, Mara Mather
Summary: Slow paced breathing via HRV biofeedback affects plasma levels of Alzheimer's disease-related proteins. Increasing heart rate oscillations decreases plasma Alpha beta, while decreasing heart rate oscillations increases Alpha beta. The interventions also have opposing effects on tTau and pTau-181 for different age groups.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Ioanna Tsantzali, Aikaterini Foska, Eleni Sideri, Evdokia Routsi, Effrosyni Tsomaka, Dimitrios K. Kitsos, Christina Zompola, Anastasios Bonakis, Sotirios Giannopoulos, Konstantinos I. Voumvourakis, Georgios Tsivgoulis, George P. Paraskevas
Summary: CSF biomarkers are the gold standard for AD diagnosis, but plasma biomarkers may provide an alternative method with comparable accuracy and the advantage of avoiding lumbar puncture.
Article
Biochemistry & Molecular Biology
Ji-Woong Kwon, Ji Hye Im, Kyue-Yim Lee, Byong Chul Yoo, Jun Hwa Lee, Kyung-Hee Kim, Jong Heon Kim, Sang Hoon Shin, Heon Yoo, Ho-Shin Gwak
Summary: We analyzed the metabolomic and proteomic profiles of cerebrospinal fluid (CSF) samples from patients with leptomeningeal metastasis (LM) in different compartments (ventricular and lumbar). Our findings suggest that the metabolite and protein profiles of CSF differ between paired lumbar and ventricular samples, and that the CSF from spinal LM-positive patients shows more similarity to the lumbar CSF. This indicates that CSF metabolites and proteins could reflect LM disease activity and that LM-associated differences in CSF are more likely to be present in the lumbar compartment.
Article
Geriatrics & Gerontology
Min Young Chun, Hyemin Jang, Hee Jin Kim, Jun Pyo Kim, John Gallacher, Jose Antonio Allue, Leticia Sarasa, Sergio Castillo, Maria L. Pascual-Lucas, Duk Na, Sang Won Seo
Summary: This study aimed to determine whether APOE genotypes, age, and cognitive status increase the predictive performance of plasma A beta and CSF A beta levels for A beta PET positivity. The results showed that both plasma A beta and CSF A beta can accurately predict A beta PET status, especially when considering clinical information such as APOE genotype and cognitive stage, plasma A beta has better predictive performance.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Genetics & Heredity
M. Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Moeslinger, M. Luz Couce, Aurelie Empain, Can Ficicioglu, Natalia Julia Palacios, Mariela M. De Los Santos De Pelegrin, Isabel A. Rivera, Sabine Scholl-Buergi, Annet M. Bosch, David Cassiman, Didem Demirbas, Matthias Gautschi, Ina Knerr, Philippe Labrune, Anastasia Skouma, Patrick Verloo, Saskia B. Wortmann, Eileen P. Treacy, David J. Timson, Gerard T. Berry
Summary: GALK1 deficiency can lead to neonatal elevation of transaminases, bleeding diathesis, and encephalopathy in addition to cataract. Most patients show enzyme activities <= 1% at diagnosis, with a variety of gene mutations, mainly NM_000154.1:c.82C>A (p.Pro28Thr). Thirty-five patients were diagnosed through newborn screening, which was found to be beneficial.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Matthew D. Benson, David J. A. Plemel, Paul R. Freund, James R. Lewis, Jorn Oliver Sass, Luzy Bahr, Corinne Gemperle-Britschgi, Patrick Ferreira, Ian M. MacDonald
Summary: Canavan disease is a neurodegenerative disorder caused by mutations in the ASPA gene. This case report highlights a previously unrecognized feature of Canavan disease, retinal degeneration leading to severe vision loss. The association between Canavan disease and retinal degeneration is further supported by findings from animal models.
OPHTHALMIC GENETICS
(2021)
Article
Genetics & Heredity
Thomas Zoeggeler, Katharina Stock, Monika Joerg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Buergi, Daniela Karall
Summary: Retrospective study on Austrian LC-FAOD patients showed that treatment with triheptanoin led to improvement in disease progression, reduced hospitalization days, and was well tolerated in most patients. Further prospective randomized controlled trials are needed for clarification.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Gastroenterology & Hepatology
Felix Grabherr, Maria Effenberger, Alisa Pedrini, Lisa Mayr, Julian Schwaerzler, Simon Reider, Barbara Enrich, Gernot Fritsche, Sophie Wildner, Rosa Bellmann-Weiler, Guenter Weiss, Sabine Scholl-Buergi, Thomas Mueller, Alexander Moschen, Timon E. Adolph, Herbert Tilg
Summary: COVID-19 patients show elevated levels of fecal neopterin, especially in those experiencing gastrointestinal symptoms, indicating an inflammatory immune response in the gastrointestinal tract.
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Sarah C. Gruenert, William Foster, Anke Schumann, Allan Lund, Christina Pontes, Sylvia Roloff, Natalie Weinhold, Wyatt W. Yue, Ali AlAsmari, Osama A. Obaid, Eissa Ali Faqeih, Lisa Stuebbe, Raina Yamamoto, Corinne Gemperle-Britschgi, Melanie Walter, Ute Spiekerkoetter, Sabrina Mackinnon, Joern Oliver Sass
Summary: Succinyl-CoA:3-oxoacid coenzyme A transferase deficiency (SCOTD) is a rare autosomal recessive disorder caused by mutations in OXCT1, leading to impaired ketone body utilization. Analysis of clinical, biochemical, and genetic data on 44 SCOTD patients revealed a wide range of symptom onset, with severe ketoacidotic episodes in all patients. Pathogenic variants in the SCOT protein may affect protein structures and biochemical consequences, contributing to the disorder. Metabolic crises in SCOTD can be life-threatening, highlighting the importance of early diagnosis and intervention.
Article
Biochemistry & Molecular Biology
Daniel Schulke, Joern Oliver Sass
Summary: Glycine conjugation is a critical detoxification pathway for recycling coenzyme A in humans. Study of wild-type enzyme and sequence variants revealed differences in specific activity, with potential pharmacogenetic implications for the prevalent p.(Gln61Leu) variant. Further research on the genetic and functional implications is recommended.
Article
Endocrinology & Metabolism
Patrick Forny, Friederike Hoerster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Gruenert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Joern Oliver Sass, Sabine Scholl-Buergi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner
Summary: This article summarizes the latest guidelines for isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA), providing a more concise version through an expert panel evaluation and compilation of recommendations to assist healthcare professionals in making informed decisions in patient care.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Endocrinology & Metabolism
Anke Schumann, Kristin Schaller, Veronique Belche, Markus Cybulla, Sarah C. Gruenert, Nicolai Moers, Joern O. Sass, Andres Kaech, Luciana Hannibal, Ute Spiekerkoetter
Summary: Fabry disease is an X-linked lysosomal storage disorder characterized by GLA enzyme deficiency and Gb3 accumulation. Research revealed disrupted mitochondrial function, enhanced metabolic demands, activation of autophagy, and high expression of Sirtuin1 in renal cells of FD patients. These findings suggest potential new therapeutic targets to enhance treatment efficacy.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Letter
Medicine, General & Internal
Jorn Oliver Sass, Sarah C. Grunert
POSTGRADUATE MEDICAL JOURNAL
(2022)
Article
Endocrinology & Metabolism
Melanie Meyer, Jana C. Hollenbeck, Janine Reunert, Anja Seelhoefer, Stephan Rust, Manfred Fobker, Saskia Biskup, Ulrike Och, Mechthild Linden, Joern Oliver Sass, Thorsten Marquardt
Summary: 3-Hydroxyisobutyric acid (3HiB) is an intermediate in valine degradation, and disorders in valine metabolism can lead to its accumulation in urine. HIBADH gene mutation results in enzyme dysfunction, but a low-valine diet can reduce 3HiB excretion. Further evaluation is needed due to limited patient numbers and intrafamilial phenotype differences.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Endocrinology & Metabolism
Corinna Melanie Held, Anic Guebelin, Andreas Krebs, Joern Oliver Sass, Michael Wurm, Ekkehart Lausch, Natascha Van der Werf-Grohmann, Karl Otfried Schwab
Summary: A diagnostic algorithm based on decreased AP activity effectively identified patients with ALPL gene mutations, particularly in cases where other underlying diseases were excluded. Three patients with decreased AP activity, elevated PLP and PEA levels were diagnosed with childhood HPP, with one starting enzyme replacement therapy.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Nicola Longo, Joern Oliver Sass, Agnieszka Jurecka, Jerry Vockley
Summary: There is a need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the potential biomarkers and surrogate endpoints based on the pathophysiology and clinical consequences of PA and MMA.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Endocrinology & Metabolism
Florin Sasarman, Sacha Ferdinandusse, David S. Sinasac, Ernest Fung, Rebecca Sparkes, Melanie Reeves, Catherine Rombough, Joern Oliver Sass, Renate Voit, Jos P. N. Ruiter, Janet Koster, Hans R. Waterham, Elisabetta Pasquini, Maria A. Donati, Thorsten Marquardt, Ronald J. A. Wanders, Walla Al-Hertani
Summary: Deficiency of HIBADH has been identified as a cause of primary 3-hydroxyisobutyric aciduria. This study reports on five patients and identifies novel variants in the HIBADH gene. The study also presents a quantitative method for measuring D- and L-3HIBA and explores the effectiveness of valine restriction therapy.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Correction
Genetics & Heredity
Sarah C. Grunert, Jorn Oliver Sass
ORPHANET JOURNAL OF RARE DISEASES
(2022)
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)