补充极长链脂肪酸对脊髓灰质炎共济失调 34 型的潜在临床益处。

IF 2.7 3区 医学 Q3 NEUROSCIENCES Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-05-21 DOI:10.1007/s12311-024-01705-x
José Gazulla, José Berciano
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引用次数: 0

摘要

脊髓小脑共济失调 34 型(SCA34)是一种显性遗传疾病,会导致晚发性共济失调,并伴有变异性红角化病形式的皮肤病变。该基因编码 ELOVL4 蛋白,具有延长超长链脂肪酸(FA)的功能,而超长链脂肪酸是中枢髓鞘的重要组成部分。这项工作的目的是回顾有关 SCA34 生化异常的医学文献,并根据获得的信息提出补充缺乏的脂肪酸的建议。我们对专门的医学文献进行了回顾。尚未有关于 SCA34 中 ELOVL4 产物 C32、C34 和 C36 FA 血浆水平的报道。然而,与 WT 相比,ELOVL4 的致病变体在细胞培养中发现 C28、C30、C32、C34 和 C36 FA 的生物合成不足,在表达突变 SCA34 蛋白质的 HeLa 细胞中,含有≥ 34 C FA 的神经酰胺和磷脂酰胆碱的水平比 WT 降低。此外,SCA34 的病理研究显示,大脑和小脑白质中的髓鞘被破坏,少突胶质细胞丢失。应测定 VLC-FA 的水平,以确定 SCA34 中具体缺乏的 FA。小脑共济失调有可能通过服用缺乏的脂肪酸得到改善,如在 SCA38 中发现的补充二十二碳六烯酸的方法。作者建议有机会接触 SCA34 的研究人员考虑这一治疗假设,并尝试验证施用 VLCFA 对这种疾病的潜在疗效。
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Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.

Spinocerebellar ataxia type 34 (SCA34) is a dominantly inherited disease that causes late-onset ataxia, in association with skin lesions in the form of erythrokeratodermia variabilis. It is caused by mutations in the ELOVL4 gene, which encodes for the ELOVL4 protein and has the function of lengthening very long chain (VLC) fatty acids (FA), which are important components of central myelin. The aim of this work was to review the medical literature on the biochemical abnormalities of SCA34, and based on the obtained information, to propose supplementation of deficient FAs. A review of the ad hoc medical literature was performed. Plasma levels of the ELOVL4 products C32, C34 and C36 FA have not been reported in SCA34 yet. However, pathogenic variants of ELOVL4 revealed deficient biosynthesis of C28, C30, C32, C34 and C36 FA compared to WT in cell cultures, and the levels of ceramides and phosphatidylcholines containing ≥ 34 C FA were decreased compared to WT in HeLa cells expressing mutant SCA34 proteins. Besides, a pathological study of SCA34 revealed myelin destruction and loss of oligodendrocytes in cerebral and cerebellar white matter. Levels of VLC-FA should be determined, to identify specifically deficient FAs in SCA34. Cerebellar ataxia could possibly be improved by administration of the deficient FAs, as found in SCA38 with supplementation of docosahexaenoic acid. The authors suggest investigators with access to SCA34, to take into consideration this therapeutic hypothesis, and try to verify the potential efficacy of administration of VLCFA in this disease.

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来源期刊
Cerebellum
Cerebellum 医学-神经科学
CiteScore
6.40
自引率
14.30%
发文量
150
审稿时长
4-8 weeks
期刊介绍: Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction. The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging. The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.
期刊最新文献
Correction: Systematic Review and Meta-Analysis of the Diagnostic Accuracy of a Graded Gait and Truncal Instability Rating in Acutely Dizzy and Ataxic Patients. Correction: Long-Term Follow-Up Before and During Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7. Correction: Silica Nanoparticles from Melon Seed Husk Abrogated Binary Metal(loid) Mediated Cerebellar Dysfunction by Attenuation of Oxido-inflammatory Response and Upregulation of Neurotrophic Factors in Male Albino Rats. Clinical Heterogeneity of Essential Tremor: Understanding Neural Substrates of Action Tremor Subtypes. The Neuroimmune System and the Cerebellum.
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