Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis

Neural Regeneration Research, 2016 · DOI: 10.4103/1673-5374.189200 · Published: August 1, 2016

Simple Explanation

This study used array-based comparative genomic hybridization (aCGH) to screen for copy number variations in children with tethered spinal cord syndrome. The researchers found non-polymorphic copy number variations associated with Angelman and Prader-Willi syndromes, and microcephaly. Gene function enrichment analysis revealed that COX8C, a gene associated with metabolic disorders of the nervous system, was located in the copy number variation region of Patient 1.

Study Duration

Not specified

Participants

Three children with tethered spinal cord syndrome and two healthy parents

Evidence Level

Not specified

Key Findings

1
Array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.
2
The results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.
3
The COX8C gene is closely related to neural system diseases such as Parkinson’s disease, Alzheimer’s disease, and Huntington’s disease.

Research Summary

This study used high-resolution aCGH to identify pathogenic CNVs in samples from patients with typical TCS. Our findings suggest an association between certain CNVs and nervous system disease. Ours study demonstrates specific transformation research, and shows that a molecular method can be used to clinically diagnose TCS.

Practical Implications

Diagnostic Tool

aCGH can be used as a molecular method to clinically diagnose TCS.

Pathogenesis Insights

Findings shed new light on the pathogenesis of TCS by linking it to specific CNVs and nervous system diseases.

Risk Assessment

The study helps in assessing the risk of TCS based on identified genetic variations and their association with other syndromes.