Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.

ABSTRACT:

Background

Leigh syndrome is a common mitochondrial disorder caused by gene mutations in the nucleus and mitochondria. When building mitochondrial complex I, the main subunit ND1 combines with the Q module to form a 273 kDa complex, which then adds Ndufa3, Ndufa8, and Ndufa13 to create an intermediate product of about 283 kDa called Q/Pp-a. Although Ndufa8 and Ndufa13 have been linked to mitochondrial diseases, the role of Ndufa3 in disease development is still not fully understood.

Methods

A family suspected of having Leigh syndrome was examined. Subjects (two brothers and a sister) underwent brain imaging, and their clinical symptoms were evaluated. Also, whole exome sequencing and minigene testing were performed by examining peripheral blood samples (2 ml) collected from

SUBMITTER: Li BG 

PROVIDER: S-EPMC11634931 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature