Charcot-Marie-Tooth, the most frequent hereditary motor and sensory neuropathies disease, is a heterogeneous disorder of the peripheral nervous system. Peripheral nerves could link the brain or spinal cord to muscles or sensory cells, which makes it easy to detect sensations such as touch, pain, heat and sound. Damage to the peripheral nerves worsens over time, which can result in alteration or loss of sensation. According to the electrophysiological and nerve biopsy studies, two major subtypes, demyelinating (CMT1 or HMSN I) and axonal (CMT2 or HMSN II), can be distinguished. CMT1 and CMT2 are usually inherited by an autosomal dominant (AD) trait, but autosomal recessive (AR) and X-linked inheritance have also been reported. More than 40 CMT genes have been identified and several genes associated with related diseases have been identified.
In particular, the disruption of Ca2+ homeostasis has been identified as an important causative factor in the pathophysiology of CMT disease. TRPV4 gene mutations could mediate Ca2+ influx which will result in intracellular toxic effects. PMP22-mediated overexpression of the P2X7 purinoceptor, resulting in high intracellular Ca2+ concentrations in Schwann cells, is a cause of CMT1A. Mutations in the FGD4 gene cause autosomal recessive demyelinating peripheral neuropathy, called CMT4H, which is characterized by its onset and slow progression in infancy or early childhood. LRSAM1 gene encodes for an E3 ubiquitin ligase, which is important for neural function. Inactivation of E3 ubiquitin ligase is characterized by onset in adulthood with slowly progressive length-dependent motor deficit, atrophy, sensory loss to all modalities and foot deformities.
Charcot-Marie-Tooth & Neuropathies are extremely complicated, which makes related gene detection challenging. Next-generation sequencing (NGS) is a strategy that can overcome this problem. Illumina MiSeq's revolutionary process and unparalleled accuracy make it an ideal platform for fast and cost-effective genetic analysis in a wide range of applications. Our platform provides targeted DNA sequencing by the Illumina MiSeq and offers an abundant Charcot-Marie-Tooth & Neuropathies panel library from which you can choose what you want for your researches.
(Check the Charcot-Marie-Tooth gene list for more genes.)
For more information about the Custom Charcot-Marie-Tooth Panel or need other amplification requirements, please contact us.