Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings

Oikarainen, Jaakko; Hinttala, Reetta; Nayebzadeh, Naemeh; Kangas, Salla M.; Mankinen, Katariina; Rahikkala, Elisa; Kokkonen, Hannaleena; Vieira, Paivi; Suo-Palosaari, Maria; Uusimaa, Johanna
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings

Oikarainen, Jaakko
Hinttala, Reetta
Nayebzadeh, Naemeh
Kangas, Salla M.
Mankinen, Katariina
Rahikkala, Elisa
Kokkonen, Hannaleena
Vieira, Paivi
Suo-Palosaari, Maria
Uusimaa, Johanna
Katso/Avaa
Lataukset: 

ELSEVIER SCI LTD
doi:10.1016/j.mito.2025.102007
URI
https://doi.org/10.1016/j.mito.2025.102007
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Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2025082791356
Tiivistelmä

Leigh syndrome is the most common phenotype of mitochondrial disorders in children. This study demonstrates clinical, neuroradiological, and molecular genetic findings in siblings with Leigh syndrome and isolated complex I assembly defect associated with intronic c.16 + 5G > A variant in the NDUFS7 gene. Whole exome sequencing was carried out to identify the causative variant. The gene and protein expression of NDUFS7 were studied using patient-derived fibroblasts. Assembly of mitochondrial respiratory chain enzymes was analyzed using Blue Native PAGE. This study shows that the NDUFS7 c.16 + 5G > A variant (rs375282422) has a causative role in Leigh syndrome. Evolution of neuroimaging findings related to this gene variant are demonstrated.

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