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1.
JCI Insight ; 8(18)2023 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-37561578

RESUMO

Acyl-CoA thioesterase 1 (ACOT1) catalyzes the hydrolysis of long-chain acyl-CoAs to free fatty acids and CoA and is typically upregulated in obesity. Whether targeting ACOT1 in the setting of high-fat diet-induced (HFD-induced) obesity would be metabolically beneficial is not known. Here we report that male and female ACOT1KO mice are partially protected from HFD-induced obesity, an effect associated with increased energy expenditure without alterations in physical activity or food intake. In males, ACOT1 deficiency increased mitochondrial uncoupling protein-2 (UCP2) protein abundance while reducing 4-hydroxynonenal, a marker of oxidative stress, in white adipose tissue and liver of HFD-fed mice. Moreover, concurrent knockdown (KD) of UCP2 with ACOT1 in hepatocytes prevented increases in oxygen consumption observed with ACOT1 KD during high lipid loading, suggesting that UCP2-induced uncoupling may increase energy expenditure to attenuate weight gain. Together, these data indicate that targeting ACOT1 may be effective for obesity prevention during caloric excess by increasing energy expenditure.


Assuntos
Dieta Hiperlipídica , Obesidade , Animais , Feminino , Masculino , Camundongos , Metabolismo Energético , Fígado/metabolismo , Obesidade/metabolismo , Aumento de Peso
2.
Eur J Med Genet ; 65(11): 104607, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36096470

RESUMO

Pathogenic variants in SOX18 are associated with hypotrichosis-lymphedema-telangiectasia-renal defects syndrome (HLTRS) and hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). Eleven patients with SOX18 related HLTRS/HLTS have been previously described. Cardinal features include varying degrees of hypotrichosis, lymphedema and telangiectasias. We report a 15-year-old female patient with a likely de novo SOX18 pathogenic variant identified on duo exome sequencing. In addition to the classic features, the currently reported patient presented with novel clinical features including musculoskeletal abnormalities and strikingly poor wound healing. Chronic skin ulcers have been a major cause of morbidity for the patient and have led to significant functional limitation. Further, our experience with wound management has been detailed. We hope to improve understanding of the clinical spectrum of this ultra-rare disorder by reviewing the phenotypic features in all reported patients including our patient.


Assuntos
Hipotricose , Linfedema , Telangiectasia , Adolescente , Alopecia , Feminino , Glomerulonefrite Membranoproliferativa , Humanos , Hipotricose/genética , Linfedema/genética , Fatores de Transcrição SOXF , Telangiectasia/genética
3.
J AAPOS ; 26(3): 164-167, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35577021

RESUMO

Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in literature. We have summarized the clinical findings that have been reported in this disorder previously and highlight a novel ophthalmic finding of foveal hypoplasia in a new case of NEDD4L-related disorder.


Assuntos
Heterotopia Nodular Periventricular , Humanos , Heterotopia Nodular Periventricular/complicações , Heterotopia Nodular Periventricular/genética , Heterotopia Nodular Periventricular/patologia
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