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Related Concept Videos

Intellectual Disability01:29

Intellectual Disability

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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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Mutations01:35

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Incomplete Dominance01:43

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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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Learning Disabilities01:25

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Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.

Reem A Alkhater1,2, Peixiang Wang1, Alessandra Ruggieri3

  • 1Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada.

Annals of Clinical and Translational Neurology
|April 26, 2019
PubMed
Summary

Mutations in LMAN2L cause epilepsy and intellectual disability by disrupting glycoprotein secretion. This study identifies a new autosomal dominant mutation leading to LMAN2L mislocalization and brain development issues.

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Epilepsy Research

Background:

  • Mis-secreted glycoproteins like LGI1 and reelin are increasingly linked to epilepsy.

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  • LMAN2L is a chaperone protein crucial for glycoprotein secretion.
  • Previous research identified a recessive LMAN2L mutation causing intellectual disability and epilepsy.