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The Neurologic Disorders in Film
Published in Eelco F. M. Wijdicks, Neurocinema—The Sequel, 2022
In the film, clinical efficacy is suggested using oleic acid (unsaturated short chain) and erucic acid, which are potent competitive inhibitors.139 This drama of a miracle cure prompted a strong critique by one of the leading experts, Dr. Hugo Moser. Lorenzo’s oil may prevent progression in some patients but mostly when they are asymptomatic. Once the disease has advanced, there is no benefit. Still, it prevented the onset of ALD in two-thirds of susceptible boys who otherwise would have progressed and died.140 The film also dramatizes the parent–physician conflict and inaccurately introduces a scene where the United Leukodystrophy Foundation objects to use of the oil. Rosen summarized the film as portraying “nurses as heartless, physicians as pompous fools, and parent support groups as mindless as a herd of sheep.”141
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
Cortisol and very occasionally fludrocortisone are used to manage the adrenal insufficiency. Lorenzo’s oil, a 4:1 mixture of the monounsaturated fatty acids mixture of triolein and trierucin, inhibits the elongation of docosanoic acid (22:0) to 26:0 and improves/normalises the plasma VLCFA level in many patients. However, it can lead to thrombocytopenia and its impact on the neurological outcome is uncertain. Activation of peroxisomal B oxidation using peroxisome proliferator activated receptor (PPAR) alpha agonists such as fibrates has been unsuccessful, though the use of conjugated linoleic acid shows some promise. Bone marrow transplant (BMT) if performed in the early stages of COCALD does prevent the progression of the neurological disease but needs to be performed before there is significant neurological impairment and carries significant risks. Thus asymptomatic patients are monitored with regular cerebral imaging. Initial gene therapy work shown it to be effective; long-term treatment clinical trials are ongoing.
Mitochondrial and peroxisomal disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Boys who have been shown to have ALD on blood testing but who have no neurological problems are strongly recommended to go on a low-fat diet and to take Lorenzo’s oil (which greatly reduces or normalises VLCFA levels), as this may delay progression of the disease. The role of Lorenzo’s oil is also being investigated in men with AMN and in symptomatic female carriers. Boys without neurological symptoms are followed up by careful brain scanning (MRI and MRS scans), as bone-marrow transplantation from healthy donors can prevent progression of the disease if performed at an early stage of deterioration. For boys with symptomatic neurological disease, treatment of the neurological symptoms is usually supportive and symptomatic. Genetic counselling is recommended for individuals affected by this disorder.
History of Drosophila neurogenetic research in South Korea
Published in Journal of Neurogenetics, 2023
Greg S. B. Suh, Kweon Yu, Young-Joon Kim, Yangkyun Oh, Joong-Jean Park
Recently, the established scientists from the United States moved to South Korea and further galvanized these research efforts and collaborations. They include Kyung-Tai Min, who was well known for his work in modeling neurological diseases such as Down syndrome in Drosophila and curing the model of adrenoleukodystrophy in flies using ‘Lorenzo’s oil’ (a mixture of unsaturated fatty acids) during his years at the National Institute of Health and Indiana University (Chang & Min, 2005; Min & Benzer, 1999). Sadly, he passed away a few years after he moved to South Korea. Most recently, Greg Seong-Bae Suh moved to KAIST, where he continues his research on understanding the identities and functions of interoceptive nutrient sensors. His group made an important contribution to our understanding of the function of glucose-sensing neurons in the brain, which were identified initially through electrophysiological recordings (Oomura et al., 1964), but whose physiological functions in animals were unclear until his group was able to show that the nutritional content of sugar, rather than its palatability, was detected by a discrete population of glucose-excited neurons (DH44 neurons in flies and CRF neurons in mammals; Dus et al., 2015; Oh, et al., 2021). In this special issue, Yangkyun Oh just assumed an independent position at Ewha Womans University presents the feeding-dependent sleep regulatory function of DH44 neurons.
A review on neuropharmacological role of erucic acid: an omega-9 fatty acid from edible oils
Published in Nutritional Neuroscience, 2022
J. B. Senthil Kumar, Bhawna Sharma
In the endoplasmic reticulum, VLCFAs are biosynthesised by the process of FA elongation pathway where addition of C2 units from malonyl-CoA to long-chain acyl-CoA [114]. The rate limiting step is catalysed by one of the seven elongases isoenzymes enzymes (ELOVL1-7) which are tissue and substrate specific. For example, ELOVL1 is tend to be more specific toward saturated and monounsaturated C-20 to C-24 CoAs and thus is accountable for the accumulation of C-22 to C-26 VLCFAs reported in X-ALD [115]. To support this connection, knockdown of ELOVL1 in X-ALD fibroblasts leads to lowering the level of C26:0, suggesting ELOVL1 could be rational target for the treatment of X-ALD [59]. Lorenzo’s oil, a 4:1 mixture of glyceryl trioleate (GTO) and glyceryl trierucate (GTE) was introduced as a dietary treatment for X-ALD [95] (Figure 6). Oleic and EA are liberated from its triglyceride form upon hydrolysis by the digestive lipase, absorbed and transported to tissue to exert their biological effect. The mechanism by which LO therapy reduced or prevents the accumulation of VLCFAs is still under debate. There could be multiple mechanism or combination of more than two mechanism, some are given below [116]. Competitive inhibition of ELOVL isozymes by oleic and EA in particular ELOVL-1Direct inhibition of VLCFA synthesis by oleic and EAPromote degradation/removal of saturated VLCFAs induced by oleic and EA and/or their metabolitesModulation of lipid homeostasis mediated by oleic and EA