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Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy
J Mol Med (Berl). 2024 Mar 30. doi: 10.1007/s00109-024-02442-8. Online ahead of print.ABSTRACTRare recessive variants in the human VRK1 gene are associated with several motor neuron diseases (MND), such as amyotrophic lateral sclerosis, spinal muscular atrophy, or distal hereditary motor neuropathies (dHMN). A case with dHMN carrying two novel VRK1 gene variants, expressing Leu200Pro (L200P) and Arg387His (R387H) variant proteins, identified that these protein variants are functionally different. The Leu200Pro variant shares with several variants in the catalytic domain the loss of the kinase activity on different substrat...
Source: Molecular Medicine - March 30, 2024 Category: Molecular Biology Authors: Aurora Campos-D íaz Patricia Morej ón-García Eva Monte-Serrano David Ros-Pardo I ñigo Marcos-Alcalde Paulino G ómez-Puertas Pedro A Lazo Source Type: research

Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy
AbstractRare recessive variants in the humanVRK1 gene are associated with several motor neuron diseases (MND), such as amyotrophic lateral sclerosis, spinal muscular atrophy, or distal hereditary motor neuropathies (dHMN). A case with dHMN carrying two novel VRK1 gene variants, expressing Leu200Pro (L200P) and Arg387His (R387H) variant proteins, identified that these protein variants are functionally different. The Leu200Pro variant shares with several variants in the catalytic domain the loss of the kinase activity on different substrates, such as histones, p53, or coilin. However, the distal Arg387His variant and the dis...
Source: Journal of Molecular Medicine - March 30, 2024 Category: Molecular Biology Source Type: research

A real-world study of Nusinersen effects in adults with spinal muscular atrophy type 2 and 3
Can J Neurol Sci. 2024 Mar 27:1-25. doi: 10.1017/cjn.2024.49. Online ahead of print.NO ABSTRACTPMID:38532567 | DOI:10.1017/cjn.2024.49 (Source: The Canadian Journal of Neurological Sciences)
Source: The Canadian Journal of Neurological Sciences - March 27, 2024 Category: Neurology Authors: Isabelle C ôté Victoria Hodgkinson Marianne Nury Louis Bastenier-Boutin Xavier Rodrigue Source Type: research

Can new drugs stop a deadly set of brain-eating diseases?
Related podcast Hope in the fight against deadly prion diseases, and side effects of organic agriculture BY Sarah Crespi , Katherine Irving , Meredith Wadman Podcast 21 Mar 2024 My friend Charlie Clark began complaining that his eyeglasses were faulty in September 2023. A trip to the optician didn’t fix them; they were still “out of alignment,” he said. The same month, his insomnia,...
Source: Science of Aging Knowledge Environment - March 21, 2024 Category: Geriatrics Source Type: research

Nutritional and lipid profile status of children with spinal muscular atrophy in China: A retrospective case-control study
Chin Med J (Engl). 2024 Mar 21. doi: 10.1097/CM9.0000000000003049. Online ahead of print.NO ABSTRACTPMID:38512107 | DOI:10.1097/CM9.0000000000003049 (Source: Chinese Medical Journal)
Source: Chinese Medical Journal - March 21, 2024 Category: General Medicine Authors: Yijie Feng Jia Wei Mei Yao Jianing Jin Yiqin Cui Qi Long Fei Chen Yi Hong Dongming Zhou Jingjing Hu Xiao Chen Feng Gao Changzheng Yuan Shanshan Mao Source Type: research

Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study
by Megan A. Iammarino, Lindsay N. Alfano, Natalie F. Reash, Brenna Sabo, Sara Conroy, Garey Noritz, Madalynn Wendland, Linda P. Lowes PurposeThis single-arm prospective cohort study aimed to evaluate the feasibility and utility of in-home body weight support harness system (BWSS) use in children treated for spinal muscular atrophy (SMA). MethodsIndividuals with 2 or 3 copies ofSMN2 who received pharmacotherapeutic treatment, had head control, and weight (Source: PLoS One)
Source: PLoS One - March 19, 2024 Category: Biomedical Science Authors: Megan A. Iammarino Source Type: research

Taking the knife to neurodegeneration: a review of surgical gene therapy delivery to the CNS
AbstractGene supplementation and editing for neurodegenerative disorders has emerged in recent years as the understanding of the genetic mechanisms underlying several neurodegenerative disorders increases. The most common medium to deliver genetic material to cells is via viral vectors; and with respect to the central nervous system, adeno-associated viral (AAV) vectors are a popular choice. The most successful example of AAV-based gene therapy for neurodegenerative disorders is Zolgensma © which is a transformative intravenous therapy given to babies with spinal muscular atrophy. However, the field has stalled in achievi...
Source: Acta Neurochirurgica - March 14, 2024 Category: Neurosurgery Source Type: research

Diagnosis of challenging spinal muscular atrophy cases with long-read sequencing
This study assesses the diagnostic potential of Long-Read Sequencing (LRS) in three SMA patients. For Patient 1, who has a heterozygous SMN1 deletion, LRS unveiled a missense mutation in SMN1 exon 5. In Patient 2, an Alu/Alu-mediated rearrangement covering the SMN1 promoter and exon 1 was identified through a blend of Multiplex Ligation-Dependent Probe Amplification (MLPA), LRS, and Gap-PCR. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - March 13, 2024 Category: Pathology Authors: Ningning Wang, Kexin Jiao, Jin He, Bochen Zhu, Nachuan Cheng, Jian Sun, Lan Chen, Wanjin Chen, Lingyun Gong, Kai Qiao, Jianying Xi, Qihan Wu, Chongbo Zhao, Wenhua Zhu Tags: Regular Article Source Type: research

Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: A phenotypic description and review of the literature
5q-associated spinal muscular atrophy (SMA) is a neurodegenerative disease that causes the loss of alpha motor neurons in the spinal cord and brainstem nuclei, leading to hypotonia and progressive muscle weakness and atrophy. The incidence of SMA is around 1 in 11,000 live births [1]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - March 12, 2024 Category: Neurology Authors: Limin Li, Manoj P Menezes, Melanie Smith, Robin Forbes, Stephan Z üchner, Amber Burgess, Ian R Woodcock, Martin B Delatycki, Eppie M Yiu Tags: Case report Source Type: research

Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
AbstractSpinal muscular atrophy (SMA) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron (SMN1) gene (localized on 5q). In consequence, cells lack expression of the corresponding protein. This pathophysiological condition is clinically associated with motor neuron (MN) degeneration leading to severe muscular atrophy. Additionally, vulnerability of other cellular populations and tissues including skeletal muscle has been demonstrated. Although the therapeutic options for SMA have considerably changed, treatment responses may differ thus underlining the persistent need ...
Source: Acta Neuropathologica - March 12, 2024 Category: Neurology Source Type: research