ciliopathies/offita

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A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice.

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Human ciliopathies are genetic disorders caused by mutations in genes responsible for the formation and function of primary cilia. Some are associated with hyperphagia and obesity (e.g., Bardet-Biedl Syndrome, Alström Syndrome), but the mechanisms underlying these problems are not fully understood.

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

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The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of

MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity.

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The ciliopathies Bardet-Biedl Syndrome and Alström Syndrome are genetically inherited pleiotropic disorders with primary clinical features of hyperphagia and obesity. Methionine aminopeptidase 2 inhibitors (MetAP2i) have been shown in preclinical and clinical studies to reduce food intake, body

Deficient primary cilia in obese adipose-derived mesenchymal stem cells: obesity, a secondary ciliopathy?

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Obesity alters the composition, structure and function of adipose tissue, characterized by chronic inflammation, insulin resistance and metabolic dysfunction. Adipose-derived mesenchymal stem cells (ASCs) are responsible for cell renewal, spontaneous repair and immunomodulation in adipose tissue.

Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice.

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Although primary cilia are well established as important sensory and signaling structures, their function in most tissues remains unknown. Obesity is a feature associated with some syndromes of cilia dysfunction, such as Bardet-Biedl syndrome (BBS) and Alström syndrome, as well as in several cilia

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

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Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss, progressive liver and kidney disease, and normal cognitive function. ALMS1, the protein defective in this disorder, localizes to the

Ciliary dysfunction and obesity.

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Obesity associates with increased health risks such as heart disease, stroke and diabetes. The steady rise in the obese population worldwide poses an increasing burden on health systems. Genetic factors contribute to the development of obesity, and the elucidation of their physiological functions

[Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches].

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The primary cilium is a specialized organelle, present at the surface of most eukaryotic cells, whose main function is to detect, integrate and transmit intra- and extra-cellular signals. Its dysfunction usually results in a group of severe clinical manifestations nowadays termed ciliopathies. The

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

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Joubert syndrome (JS) is a genetically heterogeneous autosomal recessive ciliopathy with 22 genes implicated to date, including a small, ciliary GTPase, ARL13B. ARL13B is required for cilia formation in vertebrates. JS patients display multiple symptoms characterized by ataxia due to the cerebellar

Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis.

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Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy, presenting with early obesity onset. The etiology of BBS obesity involves both central and peripheral defects, through mechanisms mostly yet to be deciphered. We previously showed BBS4 expression in adipogenesis, peaking

The cilium: a cellular antenna with an influence on obesity risk.

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Primary cilia are organelles that are present on many different cell types, either transiently or permanently. They play a crucial role in receiving signals from the environment and passing these signals to other parts of the cell. In that way, they are involved in diverse processes such as

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.

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BACKGROUND Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes.

Cilia and Obesity.

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The ciliopathies Bardet-Biedl syndrome and Alström syndrome cause obesity. How ciliary dysfunction leads to obesity has remained mysterious, partly because of a lack of understanding of the physiological roles of primary cilia in the organs and pathways involved in the regulation of metabolism and

Can faulty antennae increase adiposity? The link between cilia proteins and obesity.

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Primary cilia are sensory organelles that protrude from the surface of most mammalian cell types. In humans and mice, mutations in proteins required for normal cilia function have been identified as causing a class of disorders with overlapping phenotypes known as ciliopathies. Recent evidence has

Ciliary disturbances in syndromal and non-syndromal obesity.

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Obesity is an increasing global health problem. Although it is mainly thought to be due to the changing obesogenic environment, the genetic contribution has been estimated between 40-70%. A number of genes have been identified that cause obesity in animals as well as in humans. Rare highly penetrant

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