Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

Article Abstract:

Infantile, childhood and classic forms of Navajo neurohepatopathy (NNH), prevalent among Navajo children in the southwestern United States, are studied by homozygosity mapping in identifying the disease-causing gene. The results identified a single missense mutation in patients with NNH, which confirms that the disease is probably due to a founder effect, and extends the phenotypic spectrum associated with MPV17 mutations.

Causes of, Risk factors, Diseases, Navajos, Genetic disorders, Chromosome abnormalities

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Leigh syndrome with nephropathy and Co[Q.sub.10] deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

Article Abstract:

An infant with severe Leigh syndrome, nephrotic syndrome, and coenzyme [Q.sub.10] (Co[Q.sub.10]) deficiency in muscle and fibroblasts and compound heterozygous mutations in the decaprenyl diphosphate synthase subunit 2 (PDSS2) gene is described. Biochemical assays with radiolabeled substrates have indicated a severe defect in decaprenyl diphosphate synthase in the patient's fibroblasts.

Coenzymes, Pyrophosphates, Chemical properties, Nephrotic syndrome, Report, Leigh disease

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ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme [Q.sub.10] deficiency

Article Abstract:

The significance and the role of the ancestral kinase, aarF-domain-containing kinase 3 gene (ADCK3) in the ubiquinone synthesis are discussed. ADCK3 mutations are found to regulate the production of ATP, hence leading to the deficiency of coenzyme [Q.sub.10].

Analysis, Enzymes, Polymerase chain reaction, Enzyme synthesis, Ubiquinones

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