Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

Abstract

Mutations in LITAF may account for a significant proportion of CMT1 patients with previously unknown molecular diagnosis and may define a new mechanism of peripheral nerve perturbation leading to demyelinating neuropathy.

Analysis of congenital hypomyelinating Egr2 Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination

“…Interestingly, mutations in ABC1 result in Tangiers disease, which commonly presents with a peripheral demyelinating neuropathy (29). Likewise, LITAF, which is mutated in patients with demyelinating neuropathy variant CMT1C (30), was also present in this injury-associated set (Fig. 8B).…”

PIG7/LITAF gene mutation and overexpression of its gene product in extramammary Paget's disease

“…14 Among 3 PIG7/LITAF gene mutations detected in CMT1C patients, 2 occurred at the first nucleotide of the codon and one at the second. 8 These results indicate that the "minor" change of amino acid in PIG7/LITAF would not lead to protein dysfunction or pathogenesis of CMT1C and EMPD.…”

“…The study did not show whether the other allele of the PIG8 locus was lost or mutated or whether its mRNA or protein level was altered. Street et al 8 reported that heterozygous genomic mutations of PIG7/ LITAF were detected in CMT1C patients; however, its protein level in peripheral blood lymphocytes was not altered between patients and normal controls. They implied that mutated PIG7/ LITAF may reduce binding efficiency with protein interactors, thus leading to the degenerative changes of peripheral nerves in CMT1C.…”

“…8 Considering PIG genes are the important mediators in the p53-induced apoptotic pathway, 9 PIG7/LITAF could be a candidate gene for involvement in EMPD carcinogenesis. To address the issue, we analyzed PIG7/LITAF mRNA expression and cDNA mutations as well as p53 mRNA and protein expression in both lesion and intact skin specimens derived from EMPD patients.…”

Original article Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome

“…CMT1C disease is caused by mutations in the lipopolysaccharide-induced tumor necrosis factor-α (LITAF) gene on chromosome 16p12-16p13.3 [1,18,19]. To date only nine pathogenic mutations in the LITAF gene have been reported [6].…”