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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression].

A Drouet1, F Le Moigne2, D Salamé3

  • 1Service de neurologie, HIA Desgenettes, 108, boulevard Pinel, 69275 Lyon cedex 3, France; Centre de compétence neurofibromatose, Rhône-Alpes-Auvergne, centre Léon Bérard, 28, rue Laënnec, 69373 Lyon cedex 08, France.

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Summary

Neurofibromatosis type 2 (NF2) mosaicism can present with severe symptoms, not just mild forms. Early ophthalmological screening is crucial for at-risk children to ensure timely diagnosis and management of NF2.

Area of Science:

  • Genetics
  • Oncology
  • Ophthalmology

Background:

  • Neurofibromatosis type 2 (NF2) is a rare, dominantly inherited disorder with variable clinical presentations.

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  • Early diagnosis of NF2 is challenging due to differing adult and pediatric manifestations.
  • Molecular analysis of the NF2 gene aids diagnosis but may yield negative results in mosaicism.