Clinical implications of the molecular biology of erythropoietic protoporphyria

Todd, David J.

doi:10.1111/j.1468-3083.1998.tb00971.x

Cited by 7 publications

(2 citation statements)

References 71 publications

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“…2,17 No data, however, are available on the catalytic efficiency of any normal/EPP heterodimer. If a given EPP mutation has an effect on only the mutated subunit and not on its partner in the heterodimer, the residual cellular activity for any heterozygous person with EPP would be at least 50%.…”

Section: Introductionmentioning

confidence: 99%

Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases

Najahi‐Missaoui

Dailey

2005

Blood

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Mutations resulting in diminished activity of the dimeric enzyme ferrochelatase are a prerequisite for the inherited disorder erythropoietic protoporphyria (EPP). Patients with clinical EPP have only 10% to 30% of normal levels of ferrochelatase activity, and although many patients with EPP have one mutant allele and one "low-expression" normal allele, the possibility remains that, for some, low ferrochelatase activity may result from an EPP mutation that has an impact on both subunits of the wild-type/mutant heterodimer. Here we present data for 12 ferrochelatase wild-type/EPP mutant heterodimers showing that some mutations result in heterodimers with the residual activity anticipated from individual constituents, whereas others result in heterodimers with significantly lower activity than would be predicted. Although the data do not allow an a priori prediction of heterodimeric residual activity based solely on the in vitro activity of EPP homodimers or the position of the mutated residue within ferrochelatase, mutations that affect the dimer interface or [2Fe-2S] cluster have a significantly greater impact on residual activity than would be predicted. These data suggest that some EPP mutations may result in clinically overt EPP in the absence of a low-expression, wild-type allele; this is of potential significance for genetic counseling of patients with EPP. (Blood. 2005;106:1098-1104)

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Section: Introductionmentioning

confidence: 99%

Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases

Najahi‐Missaoui

Dailey

2005

Blood

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“…Die EPP ist eine autosomal-dominant vererbte Erkrankung mit variabler Penetranz,jedoch wird auch eine 2.Form mit rezessivem Erbgang in der Literatur erwähnt [33,41,47]. Der Enzymdefekt führt innerhalb der Häm-Synthese zu einem Überschuss von Protoporphyrin.…”

Section: Erythropoetische Protoporphyrieunclassified

Lichtdermatosen im Kindesalter

Neumann

Lehmann²

2003

Hautarzt

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Actinic dermatitis and phototoxic and idiopathic photodermatoses occur relatively often during childhood. Photodermatoses stemming from enzyme defects and genetic disorders are much less common, while photoallergic and chronic actinic dermatitis have not been dealt with to date. A specific sensitivity of a child's skin to light is often the first manifest clinical symptom of a photodermatosis, the key is to ensure early diagnosis. However, it is often difficult to reach a diagnosis, as the lesions are barely perceptible or have even healed by the time the patient is examined. This is why photoprovocation tests are so important in diagnosing photodermatoses, particularly during childhood. In addition to early diagnosis of these illnesses and offering the appropriate treatment, it is also crucial that the parents be well informed and aware of what symptoms to look for so that they can protect their children from overexposure to UV light and thereby avoid later actinic injuries that can become as serious as malignancies.

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