IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.

ABSTRACT:

Objective

To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system.

Methods

The subjects were 3 patients from 2 families who showed no inconsistencies in either clinical or brain MRI findings as PCL. We used exome sequencing, immunoblotting, and enzyme activity assays to establish a molecular diagnosis and determine the roles of ISC-associated factors in PCL.

Results

We performed genetic analyses on these 3 patients and identified compound heterozygosity for the IBA57 gene, which encodes the mitochondrial iron-sulfur protein assembly factor. Protein expression analysis revealed substantial decre

SUBMITTER: Ishiyama A 

PROVIDER: S-EPMC5591399 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature