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

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, a...

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Bibliographic Details
Published in:Antioxidants 2021-12, Vol.10 (12), p.1950
Main Authors: Lee, Inn-Chi, Chiang, Kuo-Liang
Format: Article
Language:English
Subjects:
Antioxidants
Basal ganglia
Brain stem
C-Terminus
Cerebellum
Coenzyme Q
Cofactors
complex IV assembly
Cytochrome
Cytochrome-c oxidase
Dehydrogenases
Electron transport
Encephalopathy
Epilepsy
Genes
Genotype & phenotype
Genotypes
High fat diet
Ketogenesis
Leigh syndrome
Life span
Low carbohydrate diet
Magnetic resonance imaging
Medical prognosis
Mitochondria
mitochondrial disorders
Mitochondrial DNA
Mutation
Patients
Peripheral nerves
Phenotypes
Proteins
Review
Seizures
Thalamus
Valproic acid
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Summary: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 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.
ISSN:2076-3921
2076-3921
DOI:10.3390/antiox10121950