Disease relevance of OSTM1

• Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis [1].
• In summary, we describe the identification of a novel mutation in the coding sequence of the human grey-lethal gene, which is the second OSTM1 mutation found in human ARO, confirming the involvement of this gene in the pathogenesis of this severe bone disease [1].
• At 4 months the overall mortality among those with definite and possible myocardial infarction receiving GL enzyme (6 out of 83 patients, 7.2%) was lower than that in those receiving placebo (11 out of 79, 14%); this difference was not significant [2].
• Of the 71 patients with infarction, 35 received GL enzyme and 36 placebo within 6 h of the onset of chest pain [3].

High impact information on OSTM1

• GIPN mRNA is ubiquitously expressed, and GIPN is found on the plasma membrane of transfected HEK293 cells [4].
• GIPN (GAIP interacting protein N terminus) is a 38-kDa protein with an N-terminal leucine-rich region, a central RING finger-like domain, and a putative C-terminal transmembrane domain [4].
• The expression of clcn7 and ostm1 in osteoclasts is coregulated by microphthalmia transcription factor [5].
• We report three novel osteopetrosis patients with OSTM1 mutations and review two that have been previously described [6].
• Our analysis suggests that OSTM1 defines a new subset of patients with severe central nervous system involvement [6].

Anatomical context of OSTM1

• Astrocytes comprising the new GL were positive for anti-IL-1beta [7].
• This species-specific difference in R3E mRNA expression has similarities to the high level of expression of GL mRNA in human but not rodent skeletal muscle [8].

Associations of OSTM1 with chemical compounds

• Three kinds of boreal zone fish were investigated for gastrointestinal glycyl-L-leucine (GL) dipeptide cleaving activity as a function of feeding stage and seasonal changes [9].

Analytical, diagnostic and therapeutic context of OSTM1

• Using electrophoretic mobility shift assays, we identified two MITF-binding sites (M-boxes) in the Clcn7 promoter and a single M-box in the Ostm1 promoter [5].
• The regulation of perinatal glia limitans (GL) reformation by interleukin-1beta (IL-1beta) following prenatal neural trauma in the mouse was studied in lesioned fetal mice by immunocytochemistry and computer-assisted image analysis for presence and distribution of astrocytes and IL-1beta immunoreactivity (ir) [7].

References