Mutation in<i>MPDZ</i>causes severe congenital hydrocephalus

Al‐Dosari, Mohammed S.; Al‐Owain, Mohammed; Tulbah, Maha; Kurdi, Wesam; Adly, Nouran; Al-Hemidan, Amal; Masoodi, Tariq; Albash, Buthainah; Alkuraya, Fowzan S.

doi:10.1136/jmedgenet-2012-101294

Cited by 87 publications

(76 citation statements)

References 17 publications

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“…This allows uncontrolled secretion of CSF within the ventricular system as an underlying mechanism of infant hydrocephalus often associated with abnormalities of the corpus callosum, hypoplasia or aplasia of the corticospinal tracts and aqueductal stenosis. 83 A rare mutation in the TJ gene JAM3 displays a unique autosomal-recessive syndrome with severe hemorrhagic destruction of the brain parenchyma, subependymal calcification and congenital cataracts. 84 Among other pathological findings in brain, it is important to highlight massive cystic destruction of the cerebral white matter and basal ganglia, resulting in large ventricles porencephalic cyst centered in the left frontal subcortical white matter, and reduced white matter volume.…”

Section: -81mentioning

confidence: 99%

Junctional proteins of the blood-brain barrier: New insights into function and dysfunction

et al. 2016

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Section: -81mentioning

confidence: 99%

Junctional proteins of the blood-brain barrier: New insights into function and dysfunction

et al. 2016

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“…PreOLs are selectively damaged by oxidative stress, and surviving PreOLs can fail to generate myelin in chronic lesions. 3,106 PreOL maturation arrest is correlated with astrogliosis; glial scars contain high CD44 expression that blocks PreOL differentiation and prevents remyelination. Thus, as the brain matures, PreOL-rich chronic white matter lesions may retain persistent susceptibility to hypoxia-ischemia.…”

Section: Pathophysiological Modificationsmentioning

confidence: 99%

“…Early pattern formation genes such as SHH, ZIC2, PAX6, and WNT1, neuronal path-finding genes such as L1CAM, genes related to cortical development such as POMT1, and those related to growth regulation such as PIK3CA and AKT3 have been implicated. 1,3,7,10,29,52,53,72,84,85,91,103,122 Developmental disorders presenting with hydrocephalus include neural tube disorders, forebrain and hindbrain developmental disorders, brain growth disorders, and cortical malformations. Alterations in the choroid plexus, ependyma, aqueduct, ventricles, and extraaxial spaces can also lead to hydrocephalus.…”

Section: Theme 1: Causes Of Hydrocephalus Geneticsmentioning

confidence: 99%

An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium “Opportunities for Hydrocephalus Research: Pathways to Better Outcomes”

McAllister

Williams

Walker

et al. 2015

JNS

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abbreviatioNs CPC = choroid plexus cauterization; DTI = diffusion tensor imaging; ETV = endoscopic third ventriculostomy; HCRN = Hydrocephalus Clinical Research Network; ICP = intracranial pressure; iNPH = idiopathic NPH; LPA = lysophosphatidic acid; NIH = National Institutes of Health; NPC = neural precursor cell; NPH = normal pressure hydrocephalus; NSC = neural stem cell; PreOL = precursor oligodendroglia; RCT = randomized controlled trial; SVZ = subventricular zone; TNF = tumor necrosis factor; VP = ventriculoperitoneal; VZ = ventricular zone. . International experts gave plenary talks, and extensive group discussions were held for each of the major themes.The conference emphasized patient-centered care and translational research, with the main objective to arrive at a consensus on priorities in hydrocephalus that have the potential to impact patient care in the next 5 years. The current state of hydrocephalus research and treatment was presented, and the following priorities for research were recommended for each theme. 1) Causes of Hydrocephalus-CSF absorption, production, and related drug therapies; pathogenesis of human hydrocephalus; improved animal and in vitro models of hydrocephalus; developmental and macromolecular transport mechanisms; biomechanical changes in hydrocephalus; and age-dependent mechanisms in the development of hydrocephalus. 2) Diagnosis of Hydrocephalus-implementation of a standardized set of protocols and a shared repository of technical information; prospective studies of multimodal techniques including MRI and CSF biomarkers to test potential pharmacological treatments; and quantitative and cost-effective CSF assessment techniques. 3) Treatment of Hydrocephalus-improved bioengineering efforts to reduce proximal catheter and overall shunt failure; external or implantable diagnostics and support for the biological infrastructure research that informs these efforts; and evidencebased surgical standardization with longitudinal metrics to validate or refute implemented practices, procedures, or tests. 4) Outcome in Hydrocephalus-development of specific, reliable batteries with metrics focused on the hydrocephalic 1427

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“…Many proteins and molecules that interact with MUPP1 have been discovered, but considering the number of PDZ domains, it is thought to have more binding partners. In mutation of MUPP1, it can cause severe congenital hydrocephalus, and can influence in alcohol withdrawal [3,69]. These cliniclal symptoms are all related to the nervous system, so it is thought that MUPP1 plays crucial role in the nervous system.…”

Section: Mupp1mentioning

confidence: 99%

PDZ Domain-containing Proteins at Autotypic Junctions in Myelinating Schwann Cells

Han¹,

Park²,

Hong³

et al. 2015

Journal of Life Science

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A type of cell junction that is formed between different parts within the same cell is called autotypic cell junction. Autotypic junction proteins form tight junctions found between membrane lamellae of a cell, especially in myelinating glial cells. Some of them have postsynaptic density-95/disks large/ zonula occludens-1 (PDZ) domains, which interact with the carboxyl (C)-terminal PDZ-binding motif of other proteins. PDZ domains are protein-protein interaction modules that play a role in protein complex assembly. The PDZ domain, which is widespread in bacteria, plants, yeast, metazoans, and Drosophila, allows the assembly of large multi-protein complexes. The multi-protein complexes act in intracellular signal transduction, protein targeting, and membrane polarization. The identified PDZ domain-containing proteins located at autotypic junctions include zonula occludens-1 (ZO-1), ZO-2, pals-1-associated tight junction protein (PATJ), multi-PDZ domain proteins (MUPPs), membrane-associated guanylate kinase inverted 2 (MAGI2), and protease-activated receptor (PAR)-3. PAR-3 interacts with atypical protein kinase C and PAR-6, forming a ternary complex, which plays an important role in the regulation of cell polarity. MAGI2 interacts with α-amino-3-hydroxyl-5-methyl-4-isoxazole propionate (AMPA) receptor at excitatory synapses. PATJ is detected in paranodal loops associated with claudin-1. On the other hand, MUPP1 is found in mesaxons and Schmidt-Lanterman incisures with claudin-5. ZO-1, ZO-2, and PAR-3 are found at all three sites. Different distributions of PDZ domain-containing proteins affect the development of autotypic junctions. In this review, we will describe PDZ domain-containing proteins at autotypic tight junctions in myelinating Schwann cells and their roles.

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Mutation inMPDZcauses severe congenital hydrocephalus

Abstract: Our data strongly support the candidacy of MPDZ as a novel congenital hydrocephalus disease gene.

Cited by 87 publications

References 17 publications

Junctional proteins of the blood-brain barrier: New insights into function and dysfunction

Junctional proteins of the blood-brain barrier: New insights into function and dysfunction

An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium “Opportunities for Hydrocephalus Research: Pathways to Better Outcomes”

PDZ Domain-containing Proteins at Autotypic Junctions in Myelinating Schwann Cells

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