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Background: Mitochondrial diseases are a group of disorders caused by dysfunctional organelles that generate energy for our body. Mitochondria small double-membrane organelles found in every cell of the human body except red blood cells. Mitochondrial diseases are sometimes caused by mutations in the mitochondrial DNA that affect mitochondrial function. Other mitochondrial diseases are caused by mutations in genes of the nuclear DNA, either as Autosomal recessive or Autosomal dominant inheritance pattern whose gene products are imported into the mitochondria (mitochondrial proteins) as well as acquired mitochondrial conditions. We describe a clinical presentation of a patient with an autosomal recessive mitochondrial disease due to a homozygous mutation in the nuclear gene, NDUFV1 gene (OMIM: 618225). Case presentation: In the present study, we report 36 months old girl from Saudi origin product of consanguineous marriage. With the clinical presentation of failure to gain normal developmental milestones, neuromotor regression, frequent attacks of the unexplained decreased level of consciousness and encephalopathy associated with central hypoventilation. There is a strong family history of similar presentation with early childhood deaths in two other siblings with no healthy kids for the couple. The girl evaluated thoroughly to reach a specific diagnosis, including clinical, radiological and biochemical work-up. However, we got an explanation for this phenotype through molecular genetic testing and couple referred for the Preimplantation Genetic Diagnosis. Result: The constellation of clinical presentation and radiological finding confirmed by a Molecular test showed a homozygous missense mutation c. 1268C>T p. (Thr423Met) in the NDUFV1 gene (OMIM: 618225) which is consistent with autosomal recessive mitochondrial disease. of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Mitochondrial diseases can be present at birth but can be manifested also at any age [2]. Whilst multi-system involvement is often evident, a neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease, particularly challenging for the clinician [3]. The clinical features are heterogeneous and often can mimic many neurological or other systemic diseases. The pediatric onset disease is associated with more severe multi-systemic involvement, relentless progression and poorer prognosis, however, there are rare exceptions, such as reversible respiratory chain deficiency caused by them. 14674T>C mutation [4]. Most mitochondrial function and biogenesis are controlled by nuclear DNA. Human mitochondrial DNA encodes 13 proteins of the respiratory chain, while most of the estimated 1,500 proteins and components targeted to mitochondria are nuclear-encoded. Defects in nuclear-encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes including anemia, dementia, hypertension, lymphoma, retinopathy, seizures, and neurodevelopmental disorders [5]. NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (NDUFV1) is an enzyme that in humans is encoded by the NDUFV1 gene. The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH: ubiquinone oxidoreductase) of the mitochondrial respiratory chain. Defects in complex I are a common cause of mitochondrial dysfunction. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies and neurodegenerative disorders such as Parkinson’s disease and Leigh syndrome [6]. NDUFV1 is located on the q arm of chromosome 11 in position 13.2 and has 10 exons. The NDUFV1 gene produces a 50.8 kDa protein composed of 464 amino acids [6,7]. Complex I am composed of 45 different subunits. NDUFV1 is a component of the Flavoprotein-Sulfur (FP) fragment of the enzyme. NDUFV1 is an oxidoreductase and a core subunit of complex I that is thought to be required for assembly and catalysis. It is a peripheral

Progressive Encephalopathy and Central Hypoventilation Related to Homozygosity of NDUFV1 Nuclear Gene, a Rare Mitochondrial Disease