Human diseases associated with NTE gene

Abstract

Evolutionary conserved NTE gene is important for survival and functioning of nervous system cells, its dysfunction leads to various pathologies. Here we describe characteristics of different disorders induced by NTE protein activity inhibition (OPIDN) or by NTE gene mutations: hereditary spastic paraplegia (SPG39), Boucher-Neuhaser, Gordon Holmes, Laurence-Moon, Oliver-McFarlane syndromes, Leber congenital amaurosis, pure cerebellar ataxia. Current review summarises accumulated data about clinical features of NTE associated diseases, presenting them in a historical way of biomedical studies, and observes molecular and genetic causes of these disorders.

Loss of swiss cheese in Neurons Contributes to Neurodegeneration with Mitochondria Abnormalities, Reactive Oxygen Species Acceleration and Accumulation of Lipid Droplets in Drosophila Brain

“…Mutations in the NTE/PNPLA6 (neuropathy target esterase/patatin-like phospholipase domain containing 6) gene are responsible not only for autosomal recessive HSP (SPG39) [ 6 ], but also for other rare neurological syndromes: ataxia with spasticity or pure cerebellar ataxia [ 7 , 8 , 9 ], Gordon Holmes syndrome, Boucher–Neuhäuser syndrome, Laurence–Moon syndrome, Oliver–McFarlane syndrome and Leber congenital amaurosis [ 10 , 11 , 12 , 13 , 14 ]; also see [ 15 ] for review. Neurotoxic organophosphate poisoning results in inhibition of the NTE/PNPLA6 protein and induces the OPIDN (organophosphorus compound-induced delayed neurotoxicity) syndrome [ 16 , 17 ].…”

Morpho-Functional Consequences of Swiss Cheese Knockdown in Glia of Drosophila melanogaster

“…For instance, neuromuscular junction alterations are accompanied with by an active zone decline and postsynaptic reaction to this deterioration due to the neuronal sws KD in Drosophila [ 40 ]. The human sws orthologue is associated with several syndromes of the spasticity—ataxia continuum caused by neurodegeneration in the spinal cord, cerebellum, and/or pituitary gland [ 67 ]. The murine sws orthologue is necessary for non-myelinating Schwann cells to ensheath axons in Remak fibers [ 68 ].…”

Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction

“…If some of these cells can survive despite SWS dysfunction, it is important to know why it is possible. Such studies might have some significant implications in finding out the mechanisms of cell survival maintenance, especially because of the medical significance, since mutations in the human sws orthologue PNPLA6, or organophosphate poisoning-induced inhibition of PNPLA6 protein, have neurodegenerative effects [106].…”