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Small heat shock protein B8:from cell functions to its involvement in diseases and potential therapeutic applications

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Neural Regeneration Research 2025年第10期20卷 2872-2886页

作者： Marta Chierichetti Riccardo Cristofani Valeria Crippa Veronica Ferrari Marta Cozzi Elena Casarotto Paola Pramaggiore Laura Cornaggia Guglielmo Patelli Ali Mohamed Margherita Piccolella Mariarita Galbiati Paola Rusmini Barbara Tedesco Angelo Poletti Laboratory of Experimental Biology Dipartimento di Scienze Farmacologiche e Biomolecolari“Rodolfo Paoletti”(DiSFeB)Universitàdegli Studi di MilanoMilanItaly

Heat shock protein family B(small)member 8(HSPB8)is a 22 kDa ubiquitously expressed protein belonging to the family of small heat shock ***8 is involved in various cellular mechanisms mainly related to proteotoxic stress response and in other processes such as inflammation,cell division,and ***8 binds misfolded clients to prevent their aggregation by assisting protein refolding or degradation through chaperone-assisted selective *** line with this function,the pro-degradative activity of HSPB8 has been found protective in several neurodegenerative and neuromuscular diseases characterized by protein misfolding and *** cancer,HSPB8 has a dual role being capable of exerting either a pro-or an anti-tumoral activity depending on the pathways and factors expressed by the model of cancer under ***,HSPB8 exerts a protective function in different diseases by modulating the inflammatory response,which characterizes not only neurodegenerative diseases,but also other chronic or acute conditions affecting the nervous system,such as multiple sclerosis and intracerebellar *** note,HSPB8 modulation may represent a therapeutic approach in other neurological conditions that develop as a secondary consequence of other *** is the case of cognitive impairment related to diabetes mellitus,in which HSPB8 exerts a protective activity by assuring mitochondrial *** review aims to summarize the diverse and multiple functions of HSPB8 in different pathological conditions,focusing on the beneficial effects of its ***-based and alternative therapeutic approaches targeting HSPB8 and its regulated pathways will be discussed,emphasizing how new strategies for cell and tissue-specific delivery represent an avenue to advance in disease treatments.

关键词： aggregation autophagy cancer chaperone chaperone-assisted selective autophagy cognitive impairment HSPB8 neuroinflammation neuromuscular diseases therapy

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World Journal of Clinical Cases 2021年第19期9卷 5302-5312页

作者： Jun-Yu Li Shuo-Zi Liu Dan-Feng Zheng Ying-Shuang Zhang Miao Yu Department of Orthopaedics Peking University Third HospitalBeijing 100083China Department of Hematology Peking University Third HospitalBeijing 100083China Department of Pathology Peking University Third HospitalBeijing 100083China Department of Neurology Peking University Third HospitalBeijing 100083China

BACKGROUND Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy,caused by mutations in collagen type VI alpha 1 chain(COL6A1),COL6A2,and COL6A3 *** typical clinical presentations of collagen VI-related myopathy include weakness,hypotonia,laxity of distal joints,contractures of proximal joints,and skeletal *** SUMMARY A 28-year-old female presented with scoliosis for 28 years without weakness,hypotonia,laxity of distal joints,and contracture of proximal *** tomography and magnetic resonance imaging revealed hemivertebra,butterfly vertebra,and the missing vertebral *** underwent orthopedic surgery and paravertebral muscle *** Cobb angle dropped from 103.4°to 52.9°.However,the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions,suggesting congenital muscular *** analysis indicated that mutations in COL6A1(c.1612-10G>A)and COL6A2(c.115+10G>T,c.2749G>A).Immunohistochemistry staining for collagen VI displayed shallow and ***,the patient was diagnosed as collagen VI-related *** This newly found subtype of collagen VI-related myopathy has no typical manifestations;however,it is characterized by severe scoliosis and congenital vertebral deformity.

关键词： Paravertebral pathology Scoliosis Collagen VI-related myopathy Genetic testing neuromuscular diseases Case report

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Harnessing the Power of Artificial Intelligence in neuromuscular Disease Rehabilitation: A Comprehensive Review and Algorithmic Approach

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Advances in Bioscience and Biotechnology 2024年第5期15卷 289-309页

作者： Rocco de Filippis Abdullah Al Foysal Institute of Psychopathology Rome Italy Computer Engineering (AI) University of Genova Genova Italy

neuromuscular diseases present profound challenges to individuals and healthcare systems worldwide, profoundly impacting motor functions. This research provides a comprehensive exploration of how artificial intelligence (AI) technology is revolutionizing rehabilitation for individuals with neuromuscular disorders. Through an extensive review, this paper elucidates a wide array of AI-driven interventions spanning robotic-assisted therapy, virtual reality rehabilitation, and intricately tailored machine learning algorithms. The aim is to delve into the nuanced applications of AI, unlocking its transformative potential in optimizing personalized treatment plans for those grappling with the complexities of neuromuscular diseases. By examining the multifaceted intersection of AI and rehabilitation, this paper not only contributes to our understanding of cutting-edge advancements but also envisions a future where technological innovations play a pivotal role in alleviating the challenges posed by neuromuscular diseases. From employing neural-fuzzy adaptive controllers for precise trajectory tracking amidst uncertainties to utilizing machine learning algorithms for recognizing patient motor intentions and adapting training accordingly, this research encompasses a holistic approach towards harnessing AI for enhanced rehabilitation outcomes. By embracing the synergy between AI and rehabilitation, we pave the way for a future where individuals with neuromuscular disorders can access tailored, effective, and technologically-driven interventions to improve their quality of life and functional independence.

关键词： neuromuscular diseases Rehabilitation Artificial Intelligence Machine Learning Robotic-Assisted Therapy Virtual Reality Personalized Treatment Motor Function Assistive Technologies Algorithmic Rehabilitation

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Survey of Long-Term Sequelae in Survivors of a Malignant Hyperthermia Reaction

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Open Journal of Anesthesiology 2016年第1期6卷 1-7页

作者： Kristian Werneid Barbara Brandom Department of Anesthesiology University of Pittsburgh Medical Center Pittsburgh PA USA Department of Anesthesiology Children’s Hospital of Pittsburgh Pittsburgh PA USA

BACKGROUND: Malignant Hyperthermia (MH) is a potentially fatal, autosomal dominant disorder associated with administration of volatile anesthetics and/or the depolarizing paralytic succinylcholine. Symptoms include muscle rigidity, tachycardia, elevated body temperature, and metabolic acidosis, which are secondary to accelerated skeletal muscle metabolism. MH susceptibility can be a chronic condition, and some MH susceptible patients may develop symptoms subsequent to anesthetic exposure. OBJECTIVE: This is the first study examining the sequelae of an MH event after hospital discharge. METHODS: A survey was sent to patients who voluntarily registered with the North American Malignant Hyperthermia Registry, which included questions on severity of symptoms predominating prior to the MH event, one month after the MH event, and presently on a scale of 1 - 10 with a free text option to expound further. Participants were also asked about their opinions on causality between MH and these symptoms. RESULTS: Twenty-three responses were analyzed (34.8% response rate). Participants were categorized by their age at the time of the MH event and years since the event. Most (83%) stayed in the ICU between 1 - 4 days, and 39% experienced the event over 25 years ago. While 43% did not attribute any long-term symptoms to their MH event, all others believed that certain symptoms were linked, including muscle pain (90%), muscle cramps (75%), muscle weakness (100%), back/joint pain (36%) and depression/anxiety (42%). CONCLUSIONS: Our study concluded that long-lasting morbidities may be attributed to an MH event. Chronic musculoskeletal symptoms are experienced by the majority of patients who experience acute MH.

关键词： Malignant Hyperthermia Retrospective Study Complications neuromuscular diseases

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