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PubMed · 3987728

Congenital folate malabsorption.

L Corbeel·G Van den Berghe·J Jaeken·J Van Tornout·R Eeckels
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Abstract

A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.

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Anemia, MacrocyticAnemia, MegaloblasticBiological TransportBlood-Brain BarrierBrain DiseasesCalcinosisFemaleFolic AcidFolic Acid DeficiencyHumansInfantInfectionsIntellectual DisabilityIntestinal AbsorptionMethionineSeizuresCase ReportsJournal ArticleResearch Support, Non-U.S. Gov't

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L Corbeel, G Van den Berghe, J Jaeken, J Van Tornout, R Eeckels. 1985. Congenital folate malabsorption.. https://doi.org/10.1007/bf00442302

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The E2F proteins are major regulators of the transcriptional program required to coordinate cell cycle progression and exit. In particular, E2f4 has been proposed to be the principal family member responsible for the regulation of cell cycle exit chiefly through its transcriptional repressive properties. We have previously shown that E2f4(-/-) mice display a marked macrocytic anemia implicating E2f4 in the regulation of erythropoiesis. However, these studies could not distinguish whether E2f4 was required for differentiation, survival, or proliferation control. Here, we describe a novel function for E2f4 in the promotion of erythroid proliferation. We show that loss of E2f4 results in an impaired expansion of the fetal erythroid compartment in vivo that is associated with impaired cell cycle progression and decreased erythroid proliferation. Consistent with these observations, cDNA microarray analysis reveals cell cycle control genes as one of the major class of genes down-regulated in E2f4(-/-) FLs, and we provide evidence that E2f4 may directly regulate the transcriptional expression of a number of these genes. We conclude that the macrocytic anemia of E2f4(-/-) mice results primarily from impaired cellular proliferation and that the major role of E2f4 in fetal erythropoiesis is to promote cell cycle progression and cellular proliferation.

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