Molecular diagnosis of Alpers syndrome

Nguyen, Khue Vu; Sharief, Farida S.; Chan, Sherine S.L.; Copeland, William C.; Naviaux, Robert K.

doi:10.1016/j.jhep.2005.12.026

Cited by 122 publications

(126 citation statements)

References 41 publications

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“…The clinical phenotypes of POLG-related disorders include autosomal recessive and dominant adult-onset PEO [70][71][72][73], myoclonic epilepsy, myopathy, sensory ataxia (MEMSA) syndrome [74,75], ataxia-neuropathy spectrum including mitochondrial recessive ataxia syndrome (MIRAS), and sensory ataxia, neuropathy, dysarthria, ophthalmoplegia (SANDO) syndrome [76][77][78][79], and hepatocerebral MDS (Alpers-Huttenlocher syndrome) [80][81][82][83][84][85][86][87][88][89][90]. More recently, POLG mutations were identified in individuals with clinical features of MNGIE, but no leukoencephalopathy [91].…”

Section: Polg-related Hepatocerebral Mdsmentioning

confidence: 99%

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Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

2013

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Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis (TK2, SUCLA2,

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Section: Polg-related Hepatocerebral Mdsmentioning

confidence: 99%

“…mtDNA content is reduced in liver. Disease progression is variable, with life expectancy from onset of symptoms ranging from 3 months to 12 years [80][81][82][83][84][85][86][87][88][89][90].…”

Section: Polg-related Hepatocerebral Mdsmentioning

confidence: 99%

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

2013

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“…An updated map for these mutations is available at http://tools.niehs.nih.gov/polg/ [57]. POLG-related disorders are categorized into 6 recognizable phenotypes; however, the 2 PEO phenotypes are typically adult-onset disorders [58][59][60]. Childhood-onset manifestations of POLG include the following.…”

Section: Polg-related Disordersmentioning

confidence: 99%

“…AHS is inherited in an autosomal recessive pattern, with the finding of 2 pathogenic mutations usually acquired in a compound heterozygote state [60,61]. Infants usually develop normally until disease onset, which is typically before 4 years of age.…”

Section: Ahsmentioning

confidence: 99%

Mitochondrial Disease in Childhood: Nuclear Encoded

2013

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Primary mitochondrial disorders are clinically and genetically heterogeneous, caused by an alteration(s) in either mitochondrial DNA or nuclear DNA, and affect the respiratory chain's ability to undergo oxidative phosphorylation, leading to decreased production of adenosine triphosphophate and subsequent energy failure. These disorders may present at any age, but children tend to have an acute onset of disease compared with subacute or slowly progressive presentation in adults. Varying organ involvement also contributes to the phenotypic spectrum seen in these disorders. The childhood presentation of primary mitochondrial disease is mainly due to nuclear DNA mutations, with mitochondrial DNA mutations being less frequent in childhood and more prominent in adulthood disease. The clinician should be aware of the pediatric presentation of mitochondrial disease and have an understanding of the myriad of nuclear genes responsible for these disorders. The nuclear genes can be best understood by utilizing a classification system of location and function within the mitochondria.

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“…The affected patients present with a developmental retardation followed by regression, intractable epilepsy, movement disorders, abnormal respiration and at times cortical atrophy and liver dysfunction [2]. Biochemical findings can disclose a dysfunction of the citric acid cycle due to reduced activity of respiratory chain enzymes attributable to mutations of the gene encoding the mitochondrial DNA polymerase enzyme (POLG) 1 [3]. There are so far no biochemicals or inflammatory markers reported and there is no known effective therapy.…”

Section: Introductionmentioning

confidence: 99%