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Genetics of CMT - Modifiers of CMT1A, New Causes of CMT - INC 6602

ABSTRACT: Genetics of CMT - Modifiers of CMT1A, New Causes of CMT - INC 6602

PROVIDER: PRJNA512548 | ENA |

REPOSITORIES: ENA

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Genetics of CMT - Modifiers of CMT1A, New Causes of CMT - INC 6602

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Project description:Three CMT1A patient Schwann cell populations which were derived from hESC, hiPSC, or direct converted hiNC share the disease relevant phenotypes. From comparing deep sequencing results of these populations, potential therapeutic targets were newly identified.

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Longitudinal analysis of lipid changes in the sciatic nerve caused by overexpression of PMP22 in models of CMT1A.

Project description:Charcot-Marie-Tooth type 1A (CMT1A), a prevalent progressive demyelinating peripheral neuropathy is caused by a duplication of the peripheral myelin protein (PMP22) gene. PMP22 is crucial for formation of compact myelin, but the mechanism by which PMP22 overexpression results in CMT1A pathogenesis remains elusive. To investigate these mechanisms, we analyzed the C3 and C22 mouse models, carrying 5 and 10 additional copies of the human PMP22 gene, at five developmental stages (3, 5, 7, 9, and 12 weeks of age). We focused on alterations in lipid synthesis associated with PMP22 overexpression and disease progression, and found a clear gene-dosage effect. In addition, we examined mice on the C3 background with a Schwann cell–specific c-Jun knockout. Our findings suggest potential avenues for dietary interventions, to improve myelination in CMT1A.

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