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LNC-ing Genetics in Mitochondrial Disease.
Noncoding RNA
November 2024
Department of Medicine, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Primary mitochondrial disease (MD) is a group of rare genetic diseases reported to have a prevalence of 1:5000 and is currently without a cure. This group of diseases includes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), Leber's hereditary optic neuropathy (LHON), Leigh syndrome (LS), Kearns-Sayre syndrome (KSS), and myoclonic epilepsy and ragged-red fiber disease (MERRF). Additionally, secondary mitochondrial dysfunction has been implicated in the most common current causes of mortality and morbidity, including cardiovascular disease (CVD) and cancer.
View Article and Find Full Text PDFArticle Synopsis
- A 38-year-old woman experienced difficulty walking and focal seizures, showing signs of cerebellar dysfunction and spastic lower limbs, while having a long history of epilepsy treatment since the age of 20.
- An MRI and MR spectroscopy indicated significant brain changes, including elevated lactate levels, suggesting a mitochondrial disorder.
- Due to financial constraints preventing genetic testing, she was diagnosed with MELAS and switched to alternative treatments to manage her condition.
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.
Sci Rep
November 2024
Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo University Children's Hospital, Monira, 11628, Cairo, Egypt.
Maple Syrup Urine Disease (MSUD, OMIM# 248600) is an autosomal recessive inborn error of metabolism characterized by elevated branched chain amino acids (BCAA) leucine/isoleucine and valine in blood of affected children. The phenotypic and genotypic spectrum of MSUD is largely unreported in Egypt. We recruited ten patients (4 males/6 females, 2weeks-12years) from nine unrelated families with clinical and biochemical evidence of MSUD.
View Article and Find Full Text PDFA homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.
Diabet Med
November 2024
Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Aims: Neonatal diabetes is a monogenic condition which can be the presenting feature of complex syndromes. The aim of this study was to identify novel genetic causes of neonatal diabetes with neurological features including developmental delay and epilepsy.
Methods: We performed genome sequencing in 27 individuals with neonatal diabetes plus epilepsy and/or developmental delay of unknown genetic cause.
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
NPJ Genom Med
October 2024
Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa, 230-0045, Japan.
Article Synopsis
- * The repeat expansion, consisting of around 200 repeats, caused significant reductions in both RNA and protein levels, indicating transcriptional suppression likely due to CpG hypermethylation in the promoter region.
- * Genetic analysis showed that the patient's homozygosity was a result of maternal chromosome 1 uniparental disomy, suggesting that this mechanism might help explain the presence of rare repeat expansions in other genetic disorders.
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