Differential gene expression in chronic inflammatory demyelinating polyneuropathy (CIDP) skin biopsies

• Published in: Journal of the neurological sciences Vol. 290; no. 1; pp. 115 - 122
• Main Authors: Lee, Grace, Xiang, Zhaoying, Brannagan, Thomas H, Chin, Russell L, Latov, Norman
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 15.03.2010; Elsevier
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Adolescent; Adult; Biological and medical sciences; Biomarkers - analysis; Biomarkers - metabolism; Biopsy; Charcot–Marie–Tooth disease; Chronic inflammatory demyelinating polyneuropathy; CIDP; CMT-1; Diabetic neuropathy; Differential gene expression; DNA-Binding Proteins - genetics; DNA-Binding Proteins - metabolism; Female; Gene Expression Profiling - methods; Gene Expression Regulation - genetics; Genetic Predisposition to Disease - genetics; Humans; Inflammation - genetics; Inflammation - metabolism; Inflammation - physiopathology; Inflammation Mediators - analysis; Inflammation Mediators - metabolism; Male; Medical sciences; Middle Aged; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Neurology; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Peripheral Nerves - metabolism; Peripheral Nerves - pathology; Peripheral Nerves - physiopathology; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating - genetics; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating - metabolism; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating - physiopathology; Receptors, Purinergic P2 - genetics; Receptors, Purinergic P2 - metabolism; Receptors, Purinergic P2Y1; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - analysis; RNA, Messenger - metabolism; Sensory Receptor Cells - metabolism; Sensory Receptor Cells - pathology; Skin; Skin - innervation; Skin - physiopathology; Vesicular Transport Proteins - genetics; Vesicular Transport Proteins - metabolism; Young Adult; Charcot–Marie–Tooth disease; Differential gene expression; Diabetic neuropathy; Skin; CMT-1; CIDP; Chronic inflammatory demyelinating polyneuropathy; Endocrinopathy; Neuromuscular diseases; Nervous system diseases; Diabetes mellitus; Neuropathy; Gene expression; Polyneuropathy; Genetic disease; Chronic; Biopsy; Charcot-Marie-Tooth disease; Central nervous system disease; Degenerative disease; Peripheral nerve disease; Spinal cord disease
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2009.10.006

Abstract Gene expression analysis previously identified molecular markers that are up-regulated in sural nerve biopsies from patients with chronic inflammatory demyelinating polyneuropathy (CIDP). To determine whether the same or additional genes are also up-regulated in skin, we applied gene microarray profiling and quantitative real-time PCR (qPCR) analysis to skin punch biopsies from patients with CIDP and controls. Five genes, allograft inflammatory factor 1 ( AIF-1 ), lymphatic hyaluronan receptor ( LYVE-1/XLKD1 ), FYN binding protein ( FYB ), P2RY1 (purinergic receptor P2Y, G-protein-coupled, 1), and MLLT3 (myeloid/lymphoid or mixed-lineage leukemia translocated to, 3), all associated with immune cells or inflammatory processes, were elevated in punch skin biopsies from patients with CIDP as compared to normal subjects or patients with Charcot–Marie–Tooth Type 1 (CMT1). The average fold change of the 5 genes over normal expression, as determined by qPCR, was significantly elevated in skin biopsies from patients with CIDP in comparison to CMT1 or diabetic neuropathy, and similar to that seen in Lyme disease. The findings indicate the presence of inflammatory changes in the skin of patients with CIDP.