The genetic polymorphism of ?-aminolevulinate dehydrase in Italy

Petrucci, Rita; Leonardi, Agnès; Battistuzzi, G.

doi:10.1007/bf00303023

Cited by 41 publications

(24 citation statements)

References 3 publications

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“…Because of an almost complete lack of ALAD activity, patients excrete a large amount of ALA into the urine (35). ALA has neurotoxic activity and may contribute to lead-induced toxicity to the brain (36 Petrucci and colleagues (38). Later, the cDNA was cloned and the gene sequenced by Wetmur and coworkers (39,40).…”

Section: -Aminolevulinic Acid Dehydratase Genementioning

confidence: 99%

Genetic Susceptibility to Lead Poisoning

Onalaja¹,

Cláudio²

2000

Environmental Health Perspectives

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Section: -Aminolevulinic Acid Dehydratase Genementioning

confidence: 99%

Genetic Susceptibility to Lead Poisoning

Onalaja¹,

Cláudio²

2000

Environmental Health Perspectives

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“…Three distinct charge isozymes, designated ALAD 1-1, 1-2, and 2-2 (25,26), result from the expression of two common 1 2 alleles, designated ALAD and ALAD with gene frequencies of 0.9 and 0.1, respectively, in several Caucasian populations (25)(26)(27)(28). The existence of this frequent polymorphism in a gene whose product was implicated in the pathogenesis of lead toxicity suggested the potential for a genetically determined differential susceptibility.…”

Section: Introductionmentioning

confidence: 99%

Influence of the common human delta-aminolevulinate dehydratase polymorphism on lead body burden.

Wetmur

1994

Environ Health Perspect

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&Aminolevulinate dehydratase (ALAD) is the second enzyme in the heme biosynthesis pathway. ALAD is a zinc metalloenzyme, and its inhibition by lead substitution for zinc is one of the most sensitive indicators of blood-lead accumulation, a measure of recent lead exposure. Stoichiometry calculations indicate that a significant portion of blood lead is stored in ALAD. Human ALAD exhibits a charge polymorphism, with about 20% of Caucasians expressing the rarer ALAD2 allele. Human ALAD1 and ALAD2 cDNAs and the 16-kb ALAD gene have been cloned and sequenced. A simple polymerase chain reaction test has been established and validated for determining ALAD genotypes. Two population studies have indicated that lead-exposed individuals with the ALAD allele have blood-lead levels about 10 pg/dl greater than similarly exposed individuals carrying only the ALAD1 allele. Ongoing work is directed toward determining the biochemistry underlying the allele-specific accumulation of blood lead, and toward determining the contribution of human ALAD genotype to lead accumulation in other tissues in transgenic mouse models and to final lead deposition in bone in both mouse and man. -Environ Health Perspect 102(Suppl 3): 215-219 (1994)

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“…Individuals with the ALAD 1-2 and 2-2 allele might have higher blood lead concentrations as well as higher total body burden, making them more likely to show clinical and subclinical manifestations of low-level exposure. The ALAD-2 allele is typically found in 11 to 20% of the white population (12,14), but it was not detected in an African population (15).…”

Section: Gene-environment Interaction: An Examplementioning

confidence: 96%

Genes and the environment: their impact on children's health.

Suk

Collman

1998

Environ Health Perspect

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Because the human population is biologically diverse and genetically heterogeneous, it is not surprising that differences in susceptibility to disease among individuals with or without exposure to environmental agents exist. Individuals vary greatly in their susceptibility to disease. This is true of adults and children. The etiologies of many diseases of childhood are due to a combination of factors, including genetic susceptibility and environmental exposures during vulnerable periods of ,development. Genes regulate cellular growth and development, DNA replication and repair, the metabolism of endogenous agents in the body, and the metabolism and excretion of exogenous agents that the body comes in contact with in the environment. This regulation varies over the life span, contributing to the cellular consequences of the environmental exposures. This paper summarizes the contributions of genetics in understanding the etiology of environmentally induced diseases in children. The use of biomarkers of genetic susceptibility in the study of these diseases will be discussed. Future research needs for expanding our knowledge of the interactions between genetic and environmental components of childhood diseases will be presented.Environ Health Perspect 106(Suppl 3):817-820 (1998). http://ehpnetl.niehs.nih.gov/docs/ 1998/Suppl-3/81 7-820suk/abstract.html

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The genetic polymorphism of ?-aminolevulinate dehydrase in Italy

Cited by 41 publications

References 3 publications

Genetic Susceptibility to Lead Poisoning

Genetic Susceptibility to Lead Poisoning

Influence of the common human delta-aminolevulinate dehydratase polymorphism on lead body burden.

Genes and the environment: their impact on children's health.

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