Molecular, Biochemical, and Cellular Basis of Genetic Disease

Flashcards covering key concepts and terms from the lecture on genetic diseases and their molecular and cellular basis.

Mitochondria

Organelles responsible for energy production through oxidative phosphorylation.

Leber Hereditary Optic Neuropathy (LHON)

A condition caused by mutations in mitochondrial DNA leading to visual loss.

MELAS

A mitochondrial disorder characterized by myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

Tay-Sachs Disease

A genetic disorder caused by hexosaminidase A deficiency, leading to neurological issues.

Duchenne Muscular Dystrophy

A genetic disorder caused by mutations in the dystrophin gene, resulting in progressive muscle degeneration.

Sickle Cell Disease

A genetic disorder caused by mutations in the beta-globin gene, affecting red blood cell shape.

Aniridia

A condition resulting from mutations in the Pax6 gene, leading to absence of the iris.

BRCA1 and BRCA2

Tumor suppressor genes linked to increased breast and ovarian cancer risk.

Fragile X Syndrome

A genetic condition associated with mutations in the FMRP gene, resulting in intellectual disability.

Cystic Fibrosis

A genetic disorder caused by mutations in the CFTR gene, leading to respiratory and digestive issues.

Huntington Disease

A genetic disorder characterized by progressive motor dysfunction and cognitive decline due to CAG repeat expansion.

Gene Therapy

A treatment approach that involves modifying or manipulating genes to treat diseases.

CRISPR

A technology used for gene editing to alter DNA sequences.

Heteroplasmy

The presence of both normal and mutated mtDNA within a cell, which can affect disease expression.

Enzyme Replacement Therapy

A treatment that provides missing or dysfunctional enzymes in patients.

Genetic Counseling

A process to educate and support individuals or families regarding genetic disorders.

Allelic Heterogeneity

A situation where different mutations in the same gene can cause the same phenotype.

Transcription Factors

Proteins that regulate the transcription of specific genes by helping to recruit RNA polymerase.

Oxidative Phosphorylation

A metabolic pathway that uses energy released by the oxidation of nutrients to produce ATP.