Skin cutaneous melanoma (SKCM) is the deadliest form of skin cancer due to its high heterogeneity that drives tumor aggressiveness. Melanoma plasticity consists of two distinct phenotypic states that co-exist in the tumor niche, the proliferative and the invasive, respectively associated with a high and low expression of MITF, the master regulator of melanocyte lineage. However, despite efforts, melanoma research is still far from exhaustively dissecting this phenomenon.
View Article and Find Full Text PDFBiallelic variants in are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme, which digests diverse oligopeptides, including the mitochondrial targeting sequences (MTS) that are cleaved from proteins imported across the inner mitochondrial membrane by the mitochondrial processing peptidase (MPP). Mitochondrial peptidases also play a role in the maturation of Frataxin, the protein affected in Friedreich's ataxia.
View Article and Find Full Text PDFObjective: To contribute toward the identification of population-based clinical and histopathological profile of oral squamous cell carcinoma (OSCC), this study was undertaken at the Regional Cancer Centre of Odisha (AHRCC), India.
Patients And Methods: This retrospective study included all patients diagnosed with OSCC registered at AHRCC, Odisha from 1st January 2015 to 31st December 2018. Demographic, clinical, and pathological data of each patient were retrieved from patient records.
Eur Rev Med Pharmacol Sci
April 2023
Objective: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development. TCS occurs with an incidence of 1:50,000, and more than 60% of TCS cases have no previous family history and arise as the result of de novo mutations. The high rate of de novo mutations, together with the extreme variability in the degree to which individuals can be affected, makes the provision of genetic counseling extremely complicated.
View Article and Find Full Text PDFObjective: In Europe, a great number of investigations and studies followed up to develop safer techniques performed by physicians only. Successful dedicated medical protocols included the implant of single fibers with extractable root. The aim of our study was to evaluate the efficacy of biocompatible artificial hair implants in patients with androgenetic alopecia.
View Article and Find Full Text PDFBackground: In parallel with the increase in requests for filler injections, reported complications (immediate or delayed and transient or permanent) increased too.
Case Report: In the presented case report, a patient reported a delayed complication of filler injection. The complaints of the patient and the objective evaluation revealed the presence of multiple lip nodules, that were painful both spontaneously and at the touch, after 10 years from a lip filler injection.
Recent proteomic, metabolomic, and transcriptomic studies have highlighted a connection between changes in mitochondria physiology and cellular pathophysiological mechanisms. Secondary assays to assess the function of these organelles appear fundamental to validate these -omics findings. Although mitochondrial membrane potential is widely recognized as an indicator of mitochondrial activity, high-content imaging-based approaches coupled to multiparametric to measure it have not been established yet.
View Article and Find Full Text PDFThe approved gene therapies for spinal muscular atrophy (SMA), caused by loss of survival motor neuron 1 (SMN1), greatly ameliorate SMA natural history but are not curative. These therapies primarily target motor neurons, but SMN1 loss has detrimental effects beyond motor neurons and especially in muscle. Here we show that SMN loss in mouse skeletal muscle leads to accumulation of dysfunctional mitochondria.
View Article and Find Full Text PDFNeuroblastoma (NB) is the most common extracranial tumor of early childhood and accounts for 15% of all pediatric cancer mortalities. However, the precise pathways and genes underlying its progression are unknown. Therefore, we performed a differential gene expression analysis of neuroblastoma stage 1 and stage 4 + 4S to discover biological processes associated with NB progression.
View Article and Find Full Text PDFEur Rev Med Pharmacol Sci
December 2022
Objective: Recently, Zirconia and polyaryletherketone (PEEK) have attracted increasing interest as reliable and safe materials in dental applications, mainly because of their good biomechanical characteristics. The aim of this study was to investigate the response to different loads by prosthetic frameworks for supported fixed partial dentures (FPDs), thus simulating osseointegrated implants.
Materials And Methods: The specimens were divided into two groups (n= 5 each).
Eur Rev Med Pharmacol Sci
December 2022
Objective: Ascorbyl palmitate is a fat-soluble ester of vitamin C and is used as an antioxidant food additive. While literature reports that ascorbyl palmitate can prevent exacerbation of pain and improve the quality of life of patients suffering from pain, this is not yet supported by clinical trial data. Our study aimed to investigate the effectiveness of ascorbyl palmitate in managing trigeminal neuralgia.
View Article and Find Full Text PDFEnamel formation (amelogenesis) is a two-step process whereby crystals partially grow during the secretory stage followed by a significant growth expansion during the maturation stage concurrent with an increase in vectorial Ca transport. This requires tight regulation of cytosolic Ca ( Ca ) concentration in the enamel forming ameloblasts by controlling Ca influx (entry) and Ca extrusion (clearance). Gene and protein expression studies suggest that the plasma membrane Ca -ATPases (PMCA1-4) are likely involved in Ca extrusion in ameloblasts, yet no functional analysis of these pumps has been reported nor whether their activity changes across amelogenesis.
View Article and Find Full Text PDFMitochondria are semi-autonomous, membrane-bound organelles present in the cytoplasm of nearly all eukaryotic cells [...
View Article and Find Full Text PDFChronic stress has the potential to impair health and may increase the vulnerability for psychiatric disorders. Emerging evidence suggests that specific neurometabolic dysfunctions play a role herein. In mice, chronic social defeat (CSD) stress reduces cerebral glucose uptake despite hyperglycemia.
View Article and Find Full Text PDFCharcot-Marie-Tooth (CMT) disease 4A is an autosomal-recessive polyneuropathy caused by mutations of ganglioside-induced differentiation-associated protein 1 (GDAP1), a putative glutathione transferase, which affects mitochondrial shape and alters cellular Ca homeostasis. Here, we identify the underlying mechanism. We found that patient-derived motoneurons and GDAP1 knockdown SH-SY5Y cells display two phenotypes: more tubular mitochondria and a metabolism characterized by glutamine dependence and fewer cytosolic lipid droplets.
View Article and Find Full Text PDFCisplatin (CDDP) is commonly used to treat a multitude of tumors including sarcomas, ovarian and cervical cancers. Despite recent investigations allowed to improve chemotherapy effectiveness, the molecular mechanisms underlying the development of CDDP resistance remain a major goal in cancer research. Here, we show that mitochondrial morphology and autophagy are altered in different CDDP resistant cancer cell lines.
View Article and Find Full Text PDFGliomas are heterogeneous neoplasms, classified into grade I to IV according to their malignancy and the presence of specific histological/molecular hallmarks. The higher grade of glioma is known as glioblastoma (GB). Although progress has been made in surgical and radiation treatments, its clinical outcome is still unfavorable.
View Article and Find Full Text PDFBackground: Mitochondrial fusion and fission proteins have been nominated as druggable targets in cancer. Whether their inhibition is efficacious in triple negative breast cancer (TNBC) that almost invariably develops chemoresistance is unknown.
Methods: We used a combination of bioinformatics analyses of cancer genomic databases, genetic and pharmacological Optic Atrophy 1 (OPA1) inhibition, mitochondrial function and morphology measurements, micro-RNA (miRNA) profiling and formal epistatic analyses to address the role of OPA1 in TNBC proliferation, migration, and invasion in vitro and in vivo.