SMPX

Last update 08 May 2025

Basic Info

Synonyms

Chisel, Csl, DFN6

+ [6]

Introduction

Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.

100 Clinical Results associated with SMPX

100 Translational Medicine associated with SMPX

0 Patents (Medical) associated with SMPX

Literatures (Medical) associated with SMPX

01 Dec 2024·Alzheimer's & Dementia

Transcriptome Signatures for Cognitive Resilience Among Individuals with Pathologically Confirmed Alzheimer Disease

Article

Author: Li, Donghe ; Farrer, Lindsay A. ; Stein, Thor D. ; Han, Xudong ; Jun, Gyungah R

AbstractBackgroundThe molecular mechanisms underlying individuals with neuropathologically confirmed Alzheimer disease (AD) but who were cognitively healthy prior to death (i.e., cognitively resilient) remain largely unknown.MethodWe evaluated brain‐derived RNA sequencing data from 213 individuals with cognitive resilient and 383 symptomatic AD cases. This data included newly generated sequences from Boston University Alzheimer’s Disease Research Center (BUADRC) participants, and existing data from the Framingham Heart Study (FHS), Religious Orders Study, Rush Memory and Aging Project (ROSMAP), and the Mount Sinai Brain Bank (MSBB). Differential gene expression analyses between cognitive resilient and symptomatic AD were conducted in each dataset and then the results were combined by meta‐analysis. Differentially expressed genes (DEGs) at the transcriptome‐wide significance (TWS) level (P<10‐6) in meta‐analysis and nominally significant (P<0.05) in at least two datasets were included in subsequent analyses of pathways and associations with cognitive and neuropathological traits.ResultWe identified 42 TWS genes, including 17 that were meta‐analysis P<5 × 10‐8. The two most significantly DEGs in meta‐analysis, ADAMTS2 (Log2 fold change [Log2FC] = 0.45, P = 2.25 × 10‐14) and SCGN (Log2FC = 0.57, P = 1.84 × 10‐11), were both up‐regulated in symptomatic AD brains. Significant pathways involving alpha‐amino acid catabolic process and chemical synaptic transmission modulation were identified. These genes exhibited distinct patterns of association with domain‐specific cognitive tests, which the most significant association was found with SMPX expression for memory (beta = ‐0.08, P = 0.002). Regarding neuropathological traits, IL2RG expression was the most significant association with pTau181 (beta = ‐3.56, P = 0.002). Of the two most significant DEGs, ADMTS expression was associated with memory (beta = ‐0.013, P = 0.002) and pTau231 (beta = 0.008, P = 0.005), while SCGN expression was associated with language (beta = ‐0.1, P = 0.025) and executive function (beta = ‐0.1, P = 0.02).ConclusionWe identified multiple DEGs for cognitive resilience, several of which were also associated with measures of cognitive performance prior to death and AD‐related neuropathological traits at autopsy, thus providing important insights into resilience mechanisms and strategies for delaying clinical symptoms of AD. Notably, ADAMTS2 was the top‐ranked DEG in a study conducted in brains from African American AD cases and controls (see Logue et al. abstract for this meeting).

01 Oct 2024·Current Opinion in Neurology

Current advance on distal myopathy genetics

Review

Author: Udd, Bjarne ; Ranta-aho, Johanna ; Johari, Mridul

Purpose of reviewDistal myopathies are a clinically heterogenous group of rare, genetic muscle diseases, that present with weakness in hands and/or feet at onset. Some of these diseases remain accentuated in the distal muscles whereas others may later progress to the proximal muscles. In this review, the latest findings related to genetic and clinical features of distal myopathies are summarized.Recent findingsVariants in SMPX, DNAJB2, and HSPB6 have been identified as a novel cause of late-onset distal myopathy and neuromyopathy. In oculopharyngodistal myopathies, repeat expansions were identified in two novel disease-causing genes, RILPL1 and ABCD3. In multisystem proteinopathies, variants in HNRNPA1 and TARDBP, genes previously associated with amyotrophic lateral sclerosis, have been shown to cause late-onset distal myopathy without ALS. In ACTN2-related distal myopathy, the first recessive forms of the disease have been described, adding it to the growing list of genes were both dominant and recessive forms of myopathy are present.SummaryThe identification of novel distal myopathy genes and pathogenic variants contribute to our ability to provide a final molecular diagnosis to a larger number of patients and increase our overall understanding of distal myopathy genetics and pathology.

01 Dec 2021·BMC Molecular and Cell BiologyQ4 · MEDICINE

Effects of temperature on proliferation of myoblasts from donor piglets with different thermoregulatory maturities

Q4 · MEDICINE

ArticleOA

Author: Dannenberger, Dirk ; Tuchscherer, Armin ; Ponsuksili, Siriluck ; Kalbe, Claudia ; Metzger, Katharina

AbstractBackgroundClimate change and the associated risk for the occurrence of extreme temperature events or permanent changes in ambient temperature are important in the husbandry of farm animals. The aim of our study was to investigate the effects of permanent cultivation temperatures below (35 °C) and above (39 °C, 41 °C) the standard cultivation temperature (37 °C) on porcine muscle development. Therefore, we used our porcine primary muscle cell culture derived from satellite cells as an in vitro model. Neonatal piglets have limited thermoregulatory stability, and several days after birth are required to maintain their body temperature. To consider this developmental step, we used myoblasts originating from thermolabile (five days of age) and thermostable piglets (twenty days of age).ResultsThe efficiency of myoblast proliferation using real-time monitoring via electrical impedance was comparable at all temperatures with no difference in the cell index, slope or doubling time. Both temperatures of 37 °C and 39 °C led to similar biochemical growth properties and cell viability. Only differences in the mRNA expression of myogenesis-associated genes were found at 39 °C compared to 37 °C with less MYF5, MYOD and MSTN and more MYH3 mRNA. Myoblasts grown at 35 °C are smaller, exhibit higher DNA synthesis and express higher amounts of the satellite cell marker PAX7, muscle growth inhibitor MSTN and metabolic coactivator PPARGC1A. Only permanent cultivation at 41 °C resulted in higher HSP expression at the mRNA and protein levels. Interactions between the temperature and donor age showed that MYOD, MYOG, MYH3 and SMPX mRNAs were temperature-dependently expressed in myoblasts of thermolabile but not thermostable piglets.ConclusionsWe conclude that 37 °C to 39 °C is the best physiological temperature range for adequate porcine myoblast development. Corresponding to the body temperatures of piglets, it is therefore possible to culture primary muscle cells at 39 °C. Only the highest temperature of 41 °C acts as a thermal stressor for myoblasts with increased HSP expression, but it also accelerates myogenic development. Cultivation at 35 °C, however, leads to less differentiated myoblasts with distinct thermogenetic activity. The adaptive behavior of derived primary muscle cells to different cultivation temperatures seems to be determined by the thermoregulatory stability of the donor piglets.

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