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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Mutations01:39

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Genomic Imprinting and Inheritance02:30

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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.
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Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Genome Copying Errors02:46

Genome Copying Errors

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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HDL genetic defects.

Devaki R Nair, Arun Nair, Anjly Jain1

  • 1Consultant Chemical Pathologist and Clinical Lead for Lipids and CVD prevention, Department of Clinical Biochemistry, Royal Free NHS Foundation Trust, London NW3 2QG, UK. devaki.nair@nhs.net.

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Summary
This summary is machine-generated.

Genetic defects in high-density lipoprotein cholesterol (HDL-C) transport impact its levels and function. HDL-C function, not just concentration, is key, with mutations affecting atherosclerosis risk inconsistently.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cardiovascular Science

Background:

  • High-density lipoprotein cholesterol (HDL-C) and apolipoproteins are crucial for reverse cholesterol transport.
  • Genetic defects in HDL-C metabolism can alter plasma concentrations and HDL functionality.
  • The clinical significance of HDL-C levels versus function in atherosclerosis is under investigation.

Purpose of the Study:

  • To explore the impact of genetic defects on HDL-C metabolism and its relationship with cardiovascular disease.
  • To investigate the role of specific mutations, such as the ApoA1 Milano mutation, in modulating atherosclerosis risk.
  • To understand the pathophysiology of HDL-C disorders and inform potential therapeutic strategies.

Main Methods:

  • Analysis of genetic mutations affecting HDL-C transport proteins and enzymes.
  • Examination of familial hypoalphalipoproteinaemia, Tangier disease, and Fish Eye disease.
  • Correlation of genetic defects with plasma HDL-C levels, HDL function, and atherosclerosis risk.

Main Results:

  • Genetic defects influencing HDL-C biogenesis do not consistently correlate with atherosclerosis risk.
  • The ApoA1 Milano mutation is associated with reduced atherosclerosis risk despite low HDL-C levels.
  • Mutations in ABCA1 (Tangier disease) and LCAT (Fish Eye disease) result in very low HDL-C, with variable CVD associations.

Conclusions:

  • HDL-C function may be more critical than concentration in cardiovascular health.
  • Understanding HDL biogenesis mechanisms is vital for managing HDL-C related disorders.
  • Further research into HDL-C metabolism could lead to novel treatments for dyslipidemia.