Publications by authors named "Buthaina Albash"
Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the -score, using a clinically calibrated automated patch clamp assay, for 2 missense variants found in 2 families that have been diagnosed with long QT syndrome. These variants are currently classified as variant of uncertain significance in ClinVar.
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- The study investigates a specific genetic variant in the endoplasmic reticulum membrane protein complex, linked to a rare condition called cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR), in individuals from five Kuwaiti families.
- Researchers conducted exome sequencing and confirmed the presence of a pathogenic variant [c.245C>T:p.(Thr82Met)] in these families, previously associated with similar symptoms in a Turkish family.
- Clinical features observed in the affected individuals included developmental delays, hypotonia, visual problems, and brain imaging revealed cerebellar atrophy, highlighting the severe impact of the variant on neurological development.
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations.
Methods: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD.
Results: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait.
Introduction: We describe a unique case of TECRL-CPVT presented with cardiac arrest.
Methods: Post resuscitation, the patient developed regular ventricular tachycardia featuring a left purkinje system morphology.
Results: There was clear suppression of arrhythmia with the addition of flecainide and isolated ventricular ectopy causing secondary T-wave changes.
Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron-sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it.
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- The study identifies biallelic loss-of-function variants in the SMPD4 gene as the cause of a severe neurodevelopmental disorder that leads to progressive microcephaly and early death, characterized by significant long-term complications like insulin-dependent diabetes.
- SMPD4 encodes a sphingomyelinase that plays a crucial role in maintaining lipid balance in cell membranes, particularly at the nuclear envelope, affecting cell proliferation and division.
- Research indicates that the lack of SMPD4 disrupts normal cell functions, leading to defective processes during cell division and impaired development of the brain and pancreatic beta cells, suggesting a direct link between SMPD4 deficiency and the observed clinical symptoms.
Article Synopsis
- LETM1 is a gene that encodes a protein in the inner mitochondrial membrane involved in regulating mitochondrial volume and ion balance, and its dysfunction is linked to various mitochondrial diseases.
- Research has discovered 18 individuals from 11 families with rare LETM1 mutations, showing severe symptoms mostly beginning in infancy, such as developmental delays, hearing loss, and neurodegeneration.
- Further studies in human cells and yeast have shown that these LETM1 mutations can lead to impaired potassium efflux and dysfunctional mitochondria, contributing to the observed neurological issues and other health problems.
Pyruvate, the end product of glycolysis, is a key metabolic molecule enabling mitochondrial adenosine triphosphate synthesis and takes part in multiple biosynthetic pathways within mitochondria. The mitochondrial pyruvate carrier (MPC) plays a vital role in transporting pyruvate from the cytosol into the organelle. In humans, MPC is a hetero-oligomeric complex formed by the MPC1 and MPC2 paralogs that are both necessary to stabilize each other and form a functional MPC.
View Article and Find Full Text PDFKuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include a wide range of endocrine and metabolic disorders. A retrospective study conducted between January 2015 and December 2020 revealed a total of 304,086 newborns have been screened in Kuwait. Six newborns were diagnosed with classic homocystinuria with an incidence of 1:50,000, which is not as high as in Qatar but higher than the global incidence.
View Article and Find Full Text PDFBackground: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale.
Methods: To unravel the genetic cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was adopted.
Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, including ELAC2. The ELAC2 gene codes for the mitochondrial RNase Z, responsible for endonucleolytic cleavage of the 3' ends of mitochondrial pre-tRNAs.
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