• lipid
  • This article briefly addresses the value of genetic testing in a lipid clinic with a focus on FH. (acc.org)
  • Although FH is most frequently associated with elevated LDL-C and relatively normal triglycerides (Fredrickson type IIa lipid phenotype or ICD 9 code 272.0), the phenotype can be variable and some individuals can also manifest with elevated triglycerides because of lifestyle-related factors and other coexisting genetic defects. (acc.org)
  • There are five types of familial dyslipidemia (not including subtypes), and each are classified from both the altered lipid profile and by the genetic abnormality. (wikipedia.org)
  • citation needed] Physicians and basic researchers classify dyslipidemias in two distinct ways: Presentation in the body (including the specific type of lipid that is increased) Underlying cause for the condition (genetic, or secondary to another condition). (wikipedia.org)
  • abnormalities
  • Some forms of primary hypertriglyceridemia can lead to specific symptoms: both familial chylomicronemia and primary mixed hyperlipidemia include skin symptoms (eruptive xanthoma), eye abnormalities (lipemia retinalis), hepatosplenomegaly (enlargement of the liver and spleen), and neurological symptoms. (wikipedia.org)
  • In fact, according to the Cleveland Clinic approximately 10% of cases appear to be inherited and often coexists with other genetic abnormalities that affect the blood vessels. (wikipedia.org)
  • gene
  • The relationship between hyperlipide mia and RFLP haplotypes in the apo AI-CIII-AIV gene cluster was examined in nine FCHL families : hyperlipidemia and the RFLP haplotypes were co-segregated in three families, but were not co-segregated in two families. (nii.ac.jp)
  • Genetic contributions are usually due to the additive effects of multiple genes, though occasionally may be due to a single gene defect such as in the case of familial hypercholesterolaemia. (wikipedia.org)
  • Cardiomyopathy in hamsters is an inherited condition and there are genetic lines of hamsters which are bred to retain this gene so that they may be used to study the disease. (wikipedia.org)
  • With modern genomic data, severe gene mutations with less severe effects are being explored to determine whether dietary practices can be more closely personalized to individual genetic profiles. (wikipedia.org)
  • mutations
  • 8 These genetic mutations may affect only one allele (heterozygous FH [HeFH]), both alleles (homozygous FH [HoFH]), or two different mutations affecting two alleles (compound heterozygous FH). (acc.org)
  • disorders
  • Their partnership with Enzon is for cancer drug targets and begin clinical stage programs and they paired with Shire for lead candidates of five rare, undisclosed genetic disorders. (wikipedia.org)
  • strains
  • Hamsters of different genetic strains have significant differences in susceptibility to forming gallstones. (wikipedia.org)
  • Genetic analysis of 117 albino rat strains collected from all parts of the world carried out by a team led by Takashi Kuramoto at Kyoto University in 2012, showed that the albino rats descended from hooded rats and all the albino rats descended from a single ancestor. (wikipedia.org)
  • diet
  • Nutrigenetics: studies the effect of genetic variations on the interaction between diet and health with implications to susceptible subgroups. (wikipedia.org)
  • techniques
  • Many investigators who wish to trace observations on behavior and physiology to underlying genes regard aspects of these in rats as more relevant to humans and easier to observe than in mice, giving impetus to the development of genetic research techniques applicable to rat. (wikipedia.org)