Publications by authors named "I Lambrichts"

Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited peripheral neuropathy caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. It is primarily marked by Schwann cell dedifferentiation and demyelination, leading to motor and sensory deficits. Cyclic adenosine monophosphate (cAMP) is crucial for Schwann cell differentiation and maturation.

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Individuals with type 2 diabetes mellitus (T2DM) are at an increased risk for heart failure, yet preventive cardiac care is suboptimal in this population. Pyridoxamine (PM), a vitamin B analog, has been shown to exert protective effects in metabolic and cardiovascular diseases. In this study, we aimed to investigate whether PM limits adverse cardiac remodeling and dysfunction in rats who develop T2DM.

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Article Synopsis
  • Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a duplication of the PMP22 gene on chromosome 17, leading to disrupted myelination in peripheral nerves.
  • Through studies on CMT1A mouse models and patient-derived stem cells, researchers found significant downregulation of cholesterol and lipid metabolism, as well as disturbances in plasma membrane components and cell signaling pathways.
  • Interventions that stimulate autophagy and lipolysis showed potential for rescuing the negative effects of PMP22 duplication, suggesting that targeting lipid metabolism could be a therapeutic strategy for CMT1A.
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Background: Dysregulation of the endo-lysosomal-autophagy pathway has been identified as a critical factor in the pathology of various demyelinating neurodegenerative diseases, including peripheral neuropathies. This pathway plays a crucial role in transporting newly synthesized myelin proteins to the plasma membrane in myelinating Schwann cells, making these cells susceptible to lysosome-related dysfunctions. Nevertheless, the specific impact of lysosomal dysfunction in Schwann cells and its contribution to neurodegeneration remain poorly understood.

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