Search results for " CCT"

Histopathology of Skeletal Muscle in a Distal Motor Neuropathy Associated with a Mutant CCT5 Subunit: Clues for Future Developments to Improve Differ…

2023

Genetic chaperonopathies are rare but, because of misdiagnosis, there are probably more cases than those that are recorded in the literature and databases. This occurs because practitioners are generally unaware of the existence and/or the symptoms and signs of chaperonopathies. It is necessary to educate the medical community about these diseases and, with research, to unveil their mechanisms. The structure and functions of various chaperones in vitro have been studied, but information on the impact of mutant chaperones in humans, in vivo, is scarce. Here, we present a succinct review of the most salient abnormalities of skeletal muscle, based on our earlier report of a patient who carried…

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient

2020

Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sic…

A human CCT5 gene mutation causing distal neuropathy impairs hexadecamer assembly in an archaeal model

2014

Chaperonins mediate protein folding in a cavity formed by multisubunit rings. The human CCT has eight non-identical subunits and the His147Arg mutation in one subunit, CCT5, causes neuropathy. Knowledge is scarce on the impact of this and other mutations upon the chaperone's structure and functions. To make progress, experimental models must be developed. We used an archaeal mutant homolog and demonstrated that the His147Arg mutant has impaired oligomeric assembly, ATPase activity, and defective protein homeostasis functions. These results establish for the first time that a human chaperonin gene defect can be reproduced and studied at the molecular level with an archaeal homolog. The major…

Biophysical investigation on therapeutic proteins (Chaperonins, Hsp60 and CCT/TRiC) involved in human diseases

Molecular chaperones are indispensable cellular components that assist folding and assembly of newly synthesized proteins, translocation of proteins across membranes, as well as refolding and degrading of misfolded and aggregated proteins. In the last few years, innovative therapeutic strategies targeting stability and functionality of chaperones have received great attention, particularly in the field of neurodegenerative diseases. Moreover, the growing number of diseases found linked to chaperone mutations, testifies to the importance of their role in the cellular protein-quality control mechanism. The investigation of the biophysical interactions between chaperones and specific proteins …

Biopolitik am Computerbildschirm, in V. Borsò e M. Cometa (a cura) Die Kunst, das Leben zu Bewirtschaften. Biós zwischen Politik, Öikonomie und Äeste…

2013

Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.

2022

Recognition of diseases associated with mutations of the chaperone system genes, e.g., chaperonopathies, is on the rise. Hereditary and clinical aspects are established, but the impact of the mutation on the chaperone molecule and the mechanisms underpinning the tissue abnormalities are not. Here, histological features of skeletal muscle from a patient with a severe, early onset, distal motor neuropathy, carrying a mutation on the CCT5 subunit (MUT) were examined in comparison with normal muscle (CTR). The MUT muscle was considerably modified; atrophy of fibers and disruption of the tissue architecture were prominent, with many fibers in apoptosis. CCT5 was diversely present in the sarcolem…

Clinical indications for cardiac computed tomography. From the Working Group of the Cardiac Radiology Section of the Italian Society of Medical Radio…

2012

"\"La tomografia computerizzata del cuore (CCT) è diventata uno strumento efficace in differenti contesti clinici. Lo sviluppo della tecnologia ha portato ad una progressiva espansione delle indicazioni con una concomitante riduzione della dose di radiazioni necessaria per l’esecuzione dell’indagine. Ancora oggi sono pochi i documenti delle maggiori società scientifiche internazionali che si esprimono sulle effettive modalità di utilizzo e sulle indicazioni cliniche della CCT; in particolare mancano delle linee guida complete. Questo documento rispecchia la visione del gruppo di lavoro della Sezione di Cardio-Radiologia della Società Italiana di Radiologia Medica in merito alle indicazioni …