Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype

doi:10.3390/antiox10121950

中山醫學大學機構典藏 CSMUIR > 中山醫學大學研究成果 > 其他文獻 > Item 310902500/24161

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/24161

Title:	Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype
Authors:	Lee, IC;Chiang, KL
Keywords:	mitochondrial disorders;complex IV assembly;Leigh syndrome
Date:	2021
Issue Date:	2022-08-05T10:44:05Z (UTC)
Publisher:	MDPI
Abstract:	SURF1 encodes the assembly factor for maintaining the antioxidant of cytochrome c oxidase (COX) stability in the human electron respiratory chain. Mutations in SURF1 can cause Leigh syndrome (LS), a subacute neurodegenerative encephalopathy, characterized by early onset (infancy), grave prognosis, and predominant symptoms presenting in the basal ganglia, thalamus, brainstem, cerebellum, and peripheral nerves. To date, more than sixty different SURF1 mutations have been found to cause SURF1-associated LS; however, the relationship between genotype and phenotype is still unclear. Most SURF1-associated LS courses present as typical LS and cause early mortality (before the age of ten years). However, 10% of the cases present with atypical courses with milder symptoms and increased life expectancy. One reason for this inconsistency may be due to specific duplications or mutations close to the C-terminus of the SURF1 protein appearing to cause less protein decay. Furthermore, the treatment for SURF1-associated LS is unsatisfactory. A ketogenic diet is most often prescribed and has proven to be effective. Supplementing with coenzyme Q and other cofactors is also a common treatment option; however, the results are inconsistent. Importantly, anti-epileptic drugs such as valproate-which cause mitochondrial dysfunction-should be avoided in patients with SURF1-associated LS presenting with seizures.
URI:	http://dx.doi.org/10.3390/antiox10121950 https://www.webofscience.com/wos/woscc/full-record/WOS:000735274300001 https://ir.csmu.edu.tw:8080/handle/310902500/24161
Relation:	ANTIOXIDANTS ,2021 ,v10 ,issue12
Appears in Collections:	[中山醫學大學研究成果] 其他文獻

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