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Topic Review
Tubulin Polymerization Promoting Protein for Interventions in Parkinsonism
Neurological disorders such as Parkinsonism cause serious socio-economic problems as there are only therapies that treat their symptoms. The well-established hallmark alpha-synuclein (SYN) is enriched in the inclusion bodies characteristic of Parkinsonism. A prominent partner of SYN was discovered, termed Tubulin Polymerization Promoting Protein (TPPP), which has important physiological and pathological activities such as the regulation of the microtubule network and the promotion of SYN aggregation. The role of TPPP in Parkinsonism is often neglected in research. In the normal brain, SYN and TPPP are expressed endogenously in neurons and oligodendrocytes, respectively, whilst, at an early stage of Parkinsonism, soluble hetero-associations of these proteins are found in both cell types. The cell-to-cell transmission of these proteins, which is central to disease progression, provides a unique situation for specific drug targeting.
  • 491
  • 04 Mar 2024
Topic Review
Molecular Basis of Cardiometabolic Calpain Isozymes and Calpastatin
Calpain is defined as a member of the superfamily of cysteine proteases possessing the CysPC motif within the gene. Calpain-1 and -2, which are categorized as conventional isozymes, execute limited proteolysis in a calcium-dependent fashion. Accordingly, the calpain system participates in physiological and pathological phenomena, including cell migration, apoptosis, and synaptic plasticity.
  • 489
  • 07 Dec 2023
Topic Review
Animal Model of Endometriosis
Endometriosis, a common gynecological disorder affecting around 10% of reproductive-age women, involves the growth of uterine tissue outside the uterus. Despite its long recognition, its underlying causes remain poorly understood. To study this complex condition, researchers have turned to animal models, particularly laboratory mice. These models, while cost-effective and genetically controllable, have limitations due to differences between mouse and human physiology, necessitating artificial induction of endometriosis. Innovative approaches, such as "fluorescent murine models," aid lesion identification and response assessment. Additionally, heterologous murine models involving human tissue transplantation offer insights but have their own limitations. Despite challenges, these models contribute significantly to endometriosis research, paving the way for potential treatments.
  • 486
  • 05 Sep 2023
Topic Review
miRNA Regulation in Atherosclerotic and Non-Atherosclerotic Aortic Aneurysms
Aortic aneurysms are a serious health concern as their rupture leads to high morbidity and mortality. Abdominal aortic aneurysms (AAAs) and thoracic aortic aneurysms (TAAs) exhibit differences and similarities in their pathophysiological and pathogenetic features. AAA is a multifactorial disease, mainly associated with atherosclerosis, characterized by a relevant inflammatory response and calcification. TAA is rarely associated with atherosclerosis and in some cases is associated with genetic mutations such as Marfan syndrome (MFS) and bicuspid aortic valve (BAV). MFS-related and non-genetic or sporadic TAA share aortic degeneration with endothelial-to-mesenchymal transition (End-Mt) and fibrosis, whereas in BAV TAA, aortic degeneration with calcification prevails. microRNA (miRNAs) contribute to the regulation of aneurysmatic aortic remodeling. miRNAs are a class of non-coding RNAs, which post-transcriptionally regulate gene expression. 
  • 480
  • 05 Mar 2024
Topic Review
Transjugular Intrahepatic Portosystemic Shunt toward Liver Transplant
Liver transplantation is currently the only curative therapy for patients with liver cirrhosis. Not all patients in the natural course of the disease will undergo transplantation, but the majority of them will experience portal hypertension and its complications. In addition to medical and endoscopic therapy, a key role in managing these complications is played by the placement of a transjugular intrahepatic portosystemic shunt (TIPS). Some indications for TIPS placement are well-established, and they are expanding and broadening over time. 
  • 479
  • 12 Mar 2024
Topic Review
Clinical Diagnostics to Equine Back Pain
Back pain is common in ridden horses. Back diseases in horses include Impinging Dorsal Spinous Processes, Ventral Spondylosis, Osteoarthritis of Articular Process, Intervertebral Discs Disease, Vertebral Fractures, Conformational Abnormalities, Desmopathy of the Supraspinous Ligament, Desmopathy of the Intraspinous Ligament, and Longissimus Muscle Strain. Back pain may also develop as a result of lameness (particularly hindlimb lameness). A poorly fitting saddle and an unbalanced rider are also considered important factors influencing the development of back pain in horses. The conventional diagnosis of equine back pain includes a clinical examination and diagnostic imaging examination using ultrasound, radiography, and thermography. Advanced diagnostic modalities of equine back pain involve the objectification of standard procedures through the use of algometers, a lameness locator, biometric mats, and the geometric morphometrics method. In addition to modern diagnostic methods, such as computed tomography and scintigraphy, advances in the diagnosis of equine back pain include the use of electromyography and functional electrical stimulation.
  • 475
  • 13 Mar 2024
Topic Review
Fluorescence Confocal Microscopy in Urological Malignancies
Fluorescence confocal microscopy (FCM) represents a novel diagnostic technique able to provide real-time histological images from non-fixed specimens. As a consequence of its recent developments, FCM is gaining growing popularity in urological practice. 
  • 458
  • 17 Jan 2024
Topic Review
Han:SPRD Rat as Preclinical Model of Polycystic Kidney
Autosomal Dominant Polycystic Kidney Disease (ADPKD) stands as the most prevalent hereditary renal disorder in humans, ultimately culminating in end-stage kidney disease. Animal models carrying mutations associated with polycystic kidney disease have played an important role in the advancement of ADPKD research. The Han:SPRD rat model, carrying an R823W mutation in the Anks6 gene is a well-documented animal model of inherited PKD with an autosomal dominant pattern of inheritance, closely mirroring several features of human ADPKD, including renal hyperplasia, azotemia, and extrarenal manifestations. The mutated protein, named Samcystin, is localized in cilia of tubular epithelial cells and seems to be involved in cystogenesis. The homozygous Anks6 mutation leads to end-stage renal disease and death, making it a critical factor in kidney development and function. 
  • 458
  • 29 Feb 2024
Topic Review
A Test for Fibromyalgia? Saliva DNA Methylation
Fibromyalgia (FM) is a chronic pain syndrome of unclear aetiology, and growing evidence suggests epigenetic modifications may contribute to its pathogenesis. In this study, we investigated genome-wide DNA methylation in saliva samples from fibromyalgia patients and healthy controls to identify potential epigenetic biomarkers of the disease. Salivary DNA from 53 fibromyalgia patients (78% female, mean age 43 ± 2 years) and 1619 controls without fibromyalgia or other diagnosed pathology (58% female, mean age 44 ± 2.3 years) was profiled using the Infinium Methylation EPIC array (~850,000 CpG sites). All X-chromosome CpG sites were excluded to avoid sex bias. A non-parametric Mann–Whitney U test was used to compare methylation levels between groups. Five autosomal CpG sites exceeded a significance threshold of p < 0.0001 (with false discovery rate q ≈ 0.003–0.009). These top five CpGs – located in or near the genes AFAP1, UBE2Q2P1 (pseudogene of UBE2Q2), RNASEH2C, and two intergenic regions – all showed notably lower methylation in fibromyalgia patients compared to controls. By averaging the DNA methylation levels of these five CpG sites for each individual, we derived a composite epigenetic index that was dramatically different between the fibromyalgia and control groups (mean beta value 0.189 vs 0.241, p = 3.1×10^−9). Our findings demonstrate a distinct DNA methylation signature in fibromyalgia patients that can statistically distinguish them from healthy individuals. This five-CpG methylation panel, especially when combined into a mean metric, may serve as a potential biomarker to aid in the identification of fibromyalgia. Further research is warranted to validate these markers in independent cohorts and to investigate their functional relevance to fibromyalgia’s pathophysiology.
  • 415
  • 02 Sep 2025
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