Neurocutaneous Syndrome Related Research Tools

Neurocutaneous syndromes represent a heterogeneous group of genetic disorders characterized by abnormalities of the cutaneous and nervous systems. Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC), and Sturge-Weber syndrome (SWS) are the three prototypical neurocutaneous disorders in which genetic mutations in the pathways regulating cell growth cause developmental dysfunctions of the brain, skin, and other organs. Possible contributors and molecular pathways involved in the three common neurocutaneous disorders are shown in Fig.1.

Fig.1 The scheme of the RAS/MAPK and mTOR pathways. (Stafstrom, 2017)

The mTOR signaling pathway begins at the cell membrane, where the receptors respond to growth factors and nutrient/energy molecules. Phosphatidylinositol triphosphate 3-kinase (PI3K) activates protein kinase B (AKT), a serine/threonine-specific protein kinase, and potent pro-survival and pro-oncogenic proteins. AKT directly phosphorylates TSC2 and inhibits its function. TSC2 inactivation by AKT reduces Ras homolog enriched in brain (Rheb). Overexpression of Rheb due to aTSC1 or TSC2 mutation leads to increased mTOR activation and excessive cell growth and proliferation.

Summary of the Popular Objects in Neurocutaneous Syndromes

Based on both unique molecular pathways for each syndrome and commonalities among syndromes, targeted therapies are emerging from the understanding of neurocutaneous disorders at the molecular level. Some key factors that may lead to neuronal hyperexcitability in these neurocutaneous disorders are listed in the table below.

PLC	PKC	Ras	Raf
TSC1	TSC2	NF1	NF2
MEK	ERK	GANQ	ELFN1
PI3K	AKT	Rheb	FKBP38

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Reference

Stafstrom, C. E.; et al. Epilepsy mechanisms in neurocutaneous disorders: tuberous sclerosis complex, neurofibromatosis type 1, and Sturge-Weber syndrome. Frontiers in neurology. 2017, 8: 87.

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Target

Neuroligin 3

CAV1.2

Neurabin 1

Flt1

CPLX3

PGP9.5

M1 Muscarinic Receptor

Arc

Neuroserpin

FGGY

Neurocan

PRMT1

GAD1

Stathmin 1

TrkA

Myelin Basic Protein

HMGA2

CDK1

PRNPIP

STAT3 Phospho (Ser727)

CD45RO

Huntingtin

NFIB

APPBP2

SLC32A1

Notch 1

Cathepsin D

Apo E

SCGN

DCDC2

PAX5

HIP7

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Neurocutaneous Syndrome Related Research Tools

Summary of the Popular Objects in Neurocutaneous Syndromes

Target

The Spectrum of Stem Cell-Based Neuronal Models and Their Fit for Purpose