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Clinical Trials: Inherited/Congenital/Genetic
IRB No. 03-007-1 (Dr. Ernst Reichenberger, PI): Genetic Analysis of Human Disorders: Keloid Formation
The purpose of this study is to identify genes which cause or contribute to keloid formation. Keloids are wounds which grow beyond the margin of the original skin wound.
IRB No. 03-008-1 (Dr. Ernst Reichenberger, PI): Genetic Analysis of Human Disorders: Skeletal Disorders
The purpose of this study is the investigation of rare bone disorders such as craniometaphyseal dysplasia, cherubism, aplasia cutis congenita, gnathodiaphyseal dysplasia.
IRB No. 22-174-2 (Dr. Zhichao Fan, PI): Investigating Mechanisms and Roles of Integrin Activation of Human Blood Leukocytes in Mitofusin (MFN2) Disease Condition; Charcot-Marie-Tooth Neuropathy (CMT2A)
Using methods of Integrin Activation, our laboratory has demonstrated that β2-integrin-mediated slow-rolling and arrest, but not PSGL-1- mediated cell rolling, are defective in MFN2-deficient neutrophil-like HL60 cells. This adhesion defect is associated with reduced expression of fMLP (N-formylmethionyl-leucyl-phenylalanine) receptor FPR1 (formyl peptide receptor 1) as well as the inhibited β2 integrin activation. MFN2 deficiency also leads to decreased actin polymerization, which is important for β2 integrin activation. Although a rare disease, MFN2 deficiency is responsible for a variety of Charcot-Marie-Tooth (CMAT2A) related neuropathy. Mitochondrial gene mutations are responsible for a great variety of neurologic defects in patients . Mitofusin-2 is ubiquitously expressed in eukaryotic cells, playing a critical role in mitochondrial fusion. MFN2 is essential for β2 integrin activation directly as well as indirectly through FPR1 expression. The synthesis, degradation and homeostasis of synaptic terminal mitochondrial proteins are important to nerve function. Mechanistically, Charcot-Marie-Tooth (CMT) neuropathy and related neuropathies are a heterogenous group of hereditable diseases with length dependent, degeneration of sensory and/or motor nerve fibres. With Next Gen Sequencing applied in the last decade by Inherited Peripheral Neuropathy clinics, up to 90 genes are now associated with CMT neuropathy. CMT2A, is the most common form of ";axonal"; CMT with nerve conduction velocity >38m/s and significant allelic heterogeneity. In this proposed Protocol, by seeking Donation of WBCs from UCH's Neurology patients/referrals with CMT2A, we expect to further knowledge. (*Fan Lab Methodology-See Appendix for Leukocyte Recruitment, Integrin Activation Pathways and Super Resolution/ Flow Imaging Graphics- pg.12-20)