Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy

Kataoka, Mayumi; Sahashi, Kentaro; Tsujikawa, Koyo; Takeda, Jun‐ichi; Hirunagi, Tomoki; Iida, Madoka; Katsunoa, Masahisa

doi:10.1016/j.neures.2023.04.007

Cited by 2 publications

(1 citation statement)

References 48 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Consequently, SMN emerges as a significant molecule, intricately involved in a multitude of essential activities that underpin human existence (22). These SMN genes are found within the 5q13 region, which harbors inverted repeats and multiple gene copies (20, 23,24). The telomeric version of SMN1, with its nine exons, generates a functional 294-amino acid, 38 kDa SMN protein as shown in Figure 2.…”

Section: Genetics Of Spinal Muscular Atrophymentioning

confidence: 99%

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Bagga,

Singh,

Ram

et al. 2024

Front. Neurol.

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality. Over the past decade, remarkable strides have been made in the field of SMA therapeutics, revolutionizing the landscape of patient care. One pivotal advancement is the development of gene-targeted therapies, such as nusinersen, onasemnogene abeparvovec and risdiplam which have demonstrated unprecedented efficacy in slowing disease progression. These therapies aim to address the root cause of SMA by targeting the survival motor neuron (SMN) gene, effectively restoring deficient SMN protein levels. The advent of these innovative approaches has transformed the prognosis for many SMA patients, offering a glimmer of hope where there was once limited therapeutic recourse. Furthermore, the emergence of small molecule compounds and RNA-targeting strategies has expanded the therapeutic arsenal against SMA. These novel interventions exhibit diverse mechanisms of action, including SMN protein stabilization and modulation of RNA splicing, showcasing the multifaceted nature of SMA treatment research. Collective efforts of pharmaceutical industries, research centers, and patient advocacy groups have played an important role in expediting the translation of scientific discoveries into visible clinical benefits. This review not only highlights the remarkable progress achieved in SMA therapeutics but also generates the ray of hope for the ongoing efforts required to enhance accessibility, optimize treatment strategies, rehabilitation (care and therapies) and ultimately pave the way for an improved quality of life for individuals affected by SMA.

show abstract

Section: Genetics Of Spinal Muscular Atrophymentioning

confidence: 99%

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Bagga,

Singh,

Ram

et al. 2024

Front. Neurol.

View full text Add to dashboard Cite

show abstract

Potential Effects of Low-Level Toluene Exposure on the Nervous System of Mothers and Infants

Yu,

Kim,

Choo

et al. 2024

IJMS

View full text Add to dashboard Cite

In day-to-day living, individuals are exposed to various environmentally hazardous substances that have been associated with diverse diseases. Exposure to air pollutants can occur during breathing, posing a considerable risk to those with environmental health vulnerabilities. Among vulnerable individuals, maternal exposure can negatively impact the mother and child in utero. The developing fetus is particularly vulnerable to environmentally hazardous substances, with potentially greater implications. Among air pollutants, toluene is neurotoxic, and its effects have been widely explored. However, the impact of low-level toluene exposure in daily life remains unclear. Herein, we evaluated 194 mothers and infants from the Growing children’s health and Evaluation of Environment (GREEN) cohort to determine the possible effects of early-life toluene exposure on the nervous system. Using Omics experiments, the effects of toluene were confirmed based on epigenetic changes and altered mRNA expression. Various epigenetic changes were identified, with upregulated expression potentially contributing to diseases such as glioblastoma and Alzheimer’s, and downregulated expression being associated with structural neuronal abnormalities. These findings were detected in both maternal and infant groups, suggesting that maternal exposure to environmental hazardous substances can negatively impact the fetus. Our findings will facilitate the establishment of environmental health policies, including the management of environmentally hazardous substances for vulnerable groups.

show abstract

Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy

Cited by 2 publications

References 48 publications

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Potential Effects of Low-Level Toluene Exposure on the Nervous System of Mothers and Infants

Contact Info

Product

Resources

About