Oliver McFarlane syndrome: two new cases and a review of the literature

Lisbjerg, Kristian; Andersen, Mette Klarskov; Bertelsen, Mette; Brost, Agnes G; Buchvald, Frederik; Jensen, Rikke Beck; Bisgaard, Anne‐Marie; Rosenberg, Thomas; Tümer, Zeynep; Kessel, Line

doi:10.1080/13816810.2021.1904419

Cited by 8 publications

(2 citation statements)

References 32 publications

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“…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 ].…”

Section: Introductionmentioning

confidence: 99%

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

Melentev

Ryabova

Surina

et al. 2021

IJMS

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Various neurodegenerative disorders are associated with human NTE/PNPLA6 dysfunction. Mechanisms of neuropathogenesis in these diseases are far from clearly elucidated. Hereditary spastic paraplegia belongs to a type of neurodegeneration associated with NTE/PNLPLA6 and is implicated in neuron death. In this study, we used Drosophila melanogaster to investigate the consequences of neuronal knockdown of swiss cheese (sws)—the evolutionarily conserved ortholog of human NTE/PNPLA6—in vivo. Adult flies with the knockdown show longevity decline, locomotor and memory deficits, severe neurodegeneration progression in the brain, reactive oxygen species level acceleration, mitochondria abnormalities and lipid droplet accumulation. Our results suggest that SWS/NTE/PNPLA6 dysfunction in neurons induces oxidative stress and lipid metabolism alterations, involving mitochondria dynamics and lipid droplet turnover in neurodegeneration pathogenesis. We propose that there is a complex mechanism in neurological diseases such as hereditary spastic paraplegia, which includes a stress reaction, engaging mitochondria, lipid droplets and endoplasmic reticulum interplay.

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Section: Introductionmentioning

confidence: 99%

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

Melentev

Ryabova

Surina

et al. 2021

IJMS

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“…Later it became evident that orthologues of sws have similar role in the nervous system of vertebrates [7,[16][17][18][19]. Compound heterozygous or homozygous recessive mutations in human sws orthologue called PNPLA6 induce neurological abnormalities, affecting spinal cord [19][20][21], cerebellum [22][23][24][25][26][27][28][29][30][31][32][33][34][35][36], pituitary gland [24,26,31,37,38] and photoreceptor neurons [33,36,[38][39][40]. Furthermore, in mammals PNPLA6 is maintained because of its vital role in placenta development, so knockouts are lethal [41,42].…”

Section: Introductionmentioning

confidence: 99%

Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction

Melentev

Sharapenkov

Surina

et al. 2021

Insects

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Drosophila melanogaster is one of the most famous insects in biological research. It is widely used to analyse functions of different genes. The phosphatidylcholine lysophospholipase gene swiss cheese was initially shown to be important in the fruit fly nervous system. However, the role of this gene in non-nervous cell types has not been elucidated yet, and the evolutional explanation for the conservation of its function remains elusive. In this study, we analyse expression pattern and some aspects of the role of the swiss cheese gene in the fitness of Drosophila melanogaster. We describe the spatiotemporal expression of swiss cheese throughout the fly development and analyse the survival and productivity of swiss cheese mutants. We found swiss cheese to be expressed in salivary glands, midgut, Malpighian tubes, adipocytes, and male reproductive system. Dysfunction of swiss cheese results in severe pupae and imago lethality and decline of fertility, which is impressive in males. The latter is accompanied with abnormalities of male locomotor activity and courtship behaviour, accumulation of lipid droplets in testis cyst cells and decrease in spermatozoa motility. These results suggest that normal swiss cheese is important for Drosophila melanogaster fitness due to its necessity for both specimen survival and their reproductive success.

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Skin and Lacrimal Drainage System

Yanoff,

Sassani

2025

Ocular Pathology

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Oliver McFarlane syndrome: two new cases and a review of the literature

Cited by 8 publications

References 32 publications

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

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

Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction

Skin and Lacrimal Drainage System

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