Myotonic dystrophy protein kinase (DMPK)-binding protein, MKBP, has high homology with a small heat shock protein, HSP27. Western blotting analyses showed that MKBP level in rat heart rapidly increased, with a sharp peak at one week after birth (3-fold the level at the fetus), but that it rapidly decreased (1/10 of peak value at 13 weeks). Human myocardium also showed similar age-dependency. Similar but small increase of HSP27 was observed in the neonatal rat myocardium, but not in constitutive and inducible forms of HSP70. Immunofluorescence analysis localized MKBP at the Z lines and intercalated discs in the rat myocardium. MKBP may protect actin cytoskeleton or other proteins of heart muscle against oxidative stress in the neonate.
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http://dx.doi.org/10.1247/csf.24.1 | DOI Listing |
Geroscience
January 2025
Department of Physical Medicine and Rehabilitation, University of Missouri, Columbia, MO, USA.
Sarcopenia, the pathological age-related loss of muscle mass and strength, contributes to physical decline, frailty, and diminished healthspan. The impact of sarcopenia is expected to rise as the aging population grows, and treatments remain limited. Therefore, novel approaches for enhancing physical function and strength in older adults are desperately needed.
View Article and Find Full Text PDFNat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFCerebellum
January 2025
Genetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant (AD) neurodegenerative disorder prevalent in the Americas, particularly in Mexico. Clinical manifestations include progressive ataxia and epilepsy. However, it can exhibit wide phenotypic variability and even reduced penetrance.
View Article and Find Full Text PDFClin Neurophysiol Pract
December 2024
Department of Neurology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan.
Objective: The staircase phenomenon, which refers to the increases in the force of contraction with repetitive stimulation of the muscle, has been studied for many years, but the method is difficult and not widely used. Our objective was to evaluate the staircase phenomenon in skeletal muscle using a piezoelectric sensor.
Methods: Thirty-five subjects without neuromuscular diseases (normal controls), 11 patients with Becker muscular dystrophy (BMD), and 19 patients with myotonic dystrophy type 1 (MyD) were studied.
Hum Mol Genet
January 2025
Division of Neurology, Cincinnati Children's Hospital, 3333 Burnet Ave, Cincinnati, OH 45229, United States.
Myotonic Dystrophy type 2 (DM2) is a multisystem disease affecting many tissues, including skeletal muscle, heart, and brain. DM2 is caused by unstable expansion of CCTG repeats in an intron 1 of a gene coding for cellular nuclear binding protein (CNBP). The expanded CCTG repeats cause DM2 pathology due to the accumulation of RNA CCUG repeats, which affect RNA processing in patients' cells.
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