Low-carb diet alleviates inherited form of intellectual disability in mice

Experimenting on mice with a genetic change similar to that found in people with a rare inherited disease called Kabuki syndrome, scientists report that a very low-carbohydrate diet can “open up” DNA and improve mental function.
Source: ScienceDaily Headlines - Category: Science Source Type: news

Related Links:

CONCLUSIONS: We report a fetus with Kabuki syndrome 2 detected using CMA. It is strongly recommended that CMA be included in prenatal diagnosis in fetuses with growth retardation, cardiovascular and musculoskeletal abnormalities revealed by routine Color Doppler ultrasonography. PMID: 32211113 [PubMed]
Source: International Journal of Clinical and Experimental Pathology - Category: Pathology Authors: Tags: Int J Clin Exp Pathol Source Type: research
Conclusions: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management. PMID: 31788172 [PubMed - in process]
Source: Clinics in Orthopedic Surgery - Category: Orthopaedics Tags: Clin Orthop Surg Source Type: research
Kabuki Syndrome is a disorder characterized by abnormal facial features, short stature, cardiac defects, and intellectual disability. Immunodeficiency is a lesser known feature.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Source Type: research
Publication date: Available online 19 June 2019Source: Gene Expression PatternsAuthor(s): Chunmin Dong, Meenakshi Umar, Garrett Bartoletti, Apurva Gahankari, Lauren Fidelak, Fenglei HeAbstractFormation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been...
Source: Gene Expression Patterns - Category: Genetics & Stem Cells Source Type: research
Abstract Formation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been implicated in Kabuki syndrome, which features a distinct facial appearance, skeletal abnormality, growth retardation and intellectual disability. However, the expression pat...
Source: Gene Expression Patterns : GEP - Category: Genetics & Stem Cells Authors: Tags: Gene Expr Patterns Source Type: research
In this study, we took a non-stringent score (score = 0) as the threshold to investigate the improvement of the calling results. Genotype Quality Genotype Quality (GQ) (Zhang et al., 2013) is used to evaluate the filtering results of DNSNVs, which indicates the quality value of the most likely genotype. The quality value refers the possibility of the genotype being present at the site. The larger value means the greater the likelihood of the genotype. Results To facilitate the appropriate choice of the trio calling pipelines for detecting the DNSNVs, in our study, we firstly evaluated the results of three commonly used...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 19 November 2018Source: NeuroImage: ClinicalAuthor(s): Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David GreventAbstractKabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
Kabuki syndrome is a congenital disorder with multiple anomalies and intellectual disabilities. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability, as well as a higher incidence of anxiety, attention problems, obsessive-compulsive traits and autistic behaviors. Self-Inflicted Skin Lesions is a condition in which changes on the skin are solely produced by the patient ’s own actions. This usually occurs as a result or manifestation of various psychologic problems.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Abstract Kabuki syndrome is mainly caused by autosomal de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal genetic variation using array comparative genome hybridization and a Mendeliome analysis, utilizing targeted exome analysis focusing on regions harboring rare disease-causing variants in Kabuki-like patients which remained KMT2D/KDM6A-negative. The aCGH analysis revealed a pathogenic CNV in ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
More News: Disability | Genetics | Kabuki Syndrome | Men | Nutrition | Science