Molecular, Biochemical, and Cellular Basis of Genetic Disease

Vocabulary flashcards to assist in understanding key concepts related to genetic diseases.

Mitochondria

Organelles responsible for oxidative phosphorylation and ATP production; implicated in diseases like Leber hereditary optic neuropathy.

Peroxisomes

Organelles involved in lipid metabolism and the biogenesis of certain enzymes; associated with Zellweger syndrome.

Lysosomal enzymes

Enzymes found in lysosomes that break down waste materials and cellular debris; deficiencies can lead to Tay-Sachs disease and Hurler syndrome.

Extracellular matrix

A network of proteins and molecules outside of cells; includes collagen type 1 involved in osteogenesis imperfecta.

Housekeeping genes

Genes that are constantly expressed in all cells to maintain basic cellular functions.

Phenylalanine hydroxylase (PAH)

Enzyme that converts phenylalanine to tyrosine; its deficiency leads to phenylketonuria (PKU).

CFTR

Cystic fibrosis transmembrane conductance regulator; mutations in this gene cause cystic fibrosis.

Dystrophin

A protein essential for muscle function; mutations can lead to Duchenne muscular dystrophy.

Oncogenes

Genes that, when mutated or expressed at high levels, can lead to cancer; example includes BCR-Abl associated with chronic myelogenous leukemia.

BRCA1 and BRCA2

Tumor suppressor genes that, when mutated, increase the risk of breast and ovarian cancer.

Hemostasis

The process that prevents and stops bleeding, which involves factors like Factor VIII, associated with hemophilia A.

Transcriptional regulation

The control of gene expression at the transcription level, through factors like FMRP involved in fragile X syndrome.

Allelic heterogeneity

The presence of different mutations within the same gene that can cause the same phenotype.

Recessive disease

A condition that manifests only when two copies of a mutated gene are present.

Pleiotropic phenotypes

Conditions where a single gene mutation can cause effects in multiple tissues or systems.

Genotype and phenotype correlation

The relationship between the genetic makeup of an organism (genotype) and its observable characteristics (phenotype).

Newborn screening for PKU

Routine testing performed on newborns to detect phenylketonuria, allowing for early intervention and management.

PCSK9

A protease that regulates LDL receptor levels; mutations in PCSK9 can affect cholesterol levels and heart disease risk.

AF508

The most common allele associated with cystic fibrosis in Caucasians.

Dominant mutation

A mutation that causes a phenotype when only one copy of the mutant allele is present.

Buffering effect of similar genes

When one gene's function compensates for a mutation in another gene, often seen in complex traits.