Bardet–Biedl Syndrome

Потрохова, Е. А.; Бабаян, М. Л.; Балева, Л. С.; Сафонова, М. П.; Сипягина, А. Е.

doi:10.21508/1027-4065-2020-65-6-76-83

Cited by 3 publications

(1 citation statement)

References 26 publications

(13 reference statements)

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“…Given the multiple roles of primary cilia during development and cell homeostasis, their dysfunction leads to a group of pleiotropic human disorders called ciliopathies 5 . Bardet-Biedl Syndrome (BBS) (OMIM 209900) is an iconic ciliopathy characterized primarily by retinal dystrophy, polydactyly, obesity, genital abnormalities, renal defects and learning difficulties [6][7][8] . To date, twenty-one disease-causing genes have been associated with BBS and the localisation and function of the encoded proteins identifies BBS as a ciliopathy.…”

Section: Introductionmentioning

confidence: 99%

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

Masek

Etard

Hofmann

et al. 2021

Preprint

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Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies, since the outer segments (OSs) of photoreceptors are highly specialized primary cilia. BBS1, encoded by the most commonly mutated BBS-associated gene, is part of the BBSome protein complex. Using a new bbs1 zebrafish mutant, we show that retinal development and photoreceptor differentiation are unaffected by Bbs1-loss, supported by an initially unaffected transcriptome. Quantitative proteomics and lipidomics on isolated OSs show that Bbs1 is required for BBSome-entry into OSs and that Bbs1-loss leads to accumulation of membrane-associated proteins in OSs, with enrichment in proteins involved in lipid homeostasis. Disruption of the tightly regulated OS lipid composition with increased OS cholesterol content are paralleled by early functional visual deficits, which precede progressive OS morphological anomalies. Our findings identify a new role for Bbs1/BBSome in OS lipid homeostasis and suggest a new pathomechanism underlying retinal degeneration in BBS.

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Section: Introductionmentioning

confidence: 99%

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

Masek

Etard

Hofmann

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

et al. 2022

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Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies, since the outer segments (OSs) of photoreceptors are highly specialized primary cilia. BBS1, encoded by the most commonly mutated BBS-associated gene, is part of the BBSome protein complex. Using a bbs1 zebrafish mutant, we show that retinal development and photoreceptor differentiation are unaffected by Bbs1-loss, supported by an initially unaffected transcriptome. Quantitative proteomics and lipidomics on samples enriched for isolated OSs show that Bbs1 is required for BBSome-complex stability and that Bbs1-loss leads to accumulation of membrane-associated proteins in OSs, with enrichment in proteins involved in lipid homeostasis. Disruption of the tightly regulated OS lipid composition with increased OS cholesterol content are paralleled by early functional visual deficits, which precede progressive OS morphological anomalies. Our findings identify a role for Bbs1/BBSome in OS lipid homeostasis, suggesting a pathomechanism underlying retinal degeneration in BBS.

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Geographic distribution of the LZTFL1 SNP markers associated with severe COVID-19 in Russia and worldwide

Balanovskaya

Gorin

Петрушенко

et al. 2022

BRSMU

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The correlation between the risk of death from COVID-19 and the patient's ethnogeographic origin has been previously detected. LZTFL1 gene was identified as a potential marker of a two times higher risk of severe COVID-19. The study was aimed to assess spatial variation in the LZTFL1 SNP markers in indigenous populations of Russia and the world. Spatial variation in the LZTFL1 polymorphic markers was analyzed in 28 metapopulations (97 ethnic groups) of North Eurasia (n = 1980) and 34 world's metapopulations (n = 3637) by bioinformatics, statistical and cartographic methods. In North Eurasia, the major geographic variation vectors, North–South and West–East, are generally in line with the Caucasoid–Mongoloid anthropological vector. Global variation also corresponds to anthropological features: each cluster of indigenous populations includes only those from the place where it originates: Africa, Asia, or America. Indo-European cluster integrates Caucasoid populations of Europe and Asia. All four clusters of the world's indigenous population are separated from each other. The huge genetic diversity of Russia peoples and neighboring countries forms a bridge between three continents: Europe, Asia and America. Cartographic atlas for spatial variation in 11 LZTFL1 markers in the populations has been created. The following major patterns have been revealed: а) the world's extrema fall on the indigenous populations of Africa and America; 2) Eurasia constitutes a transition zone between these two extrema, but has its own patterns and shows enormous scale of variation shows enormous variation on a global scale; 3) the genetic landscape of Russia tends to be seamlessly integrated into the Eurasian landscape.

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Bardet–Biedl Syndrome

Cited by 3 publications

References 26 publications

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

Geographic distribution of the LZTFL1 SNP markers associated with severe COVID-19 in Russia and worldwide

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