Organelle-Based Diseases Overview

Diseases caused by malfunctions in specific cell organelles, which are specialized structures within a cell.

Diseases resulting from problems with the nuclear envelope, the membrane surrounding the cell nucleus.

A group of genetic disorders where harmful substances build up in lysosomes, which are the cell's waste disposal system.

Genetic disorders caused by a change (mutation) in a single gene.

A condition where the number of chromosomes is different from the normal 46, often due to a missing or extra chromosome.

Changes in the structure or number of chromosomes causing abnormalities and disorders.

Specific genetic causes of a broad range of organelle-based diseases are explored.

Explores how changes in the shape and role of proteins cause organelle-based diseases.

Failure of chromosomes to separate properly during meiosis, resulting in an abnormal number of chromosomes in daughter cells.

A condition where an individual has three copies of a particular chromosome instead of the usual two.

A condition where an individual has only one copy of a particular chromosome instead of the usual two.

Loss of a segment of a chromosome, leading to a missing set of genes.

An extra copy of a chromosome segment, leading to an additional set of genes.

A change in a single DNA nucleotide within a gene, occurring rarely in a population (<1%).

A point mutation that occurs in reproductive cells and can be passed on to offspring.

A point mutation that occurs in any cell other than reproductive cells, not passed on to offspring.

Single Nucleotide Polymorphism. A common variation in a single DNA nucleotide, present in at least 1% of the population.

A SNP that doesn't directly affect protein function, but can be associated with disease risk or drug response.

A SNP that directly affects protein function and can cause a disease or influence drug response.

A point mutation that changes a codon to encode a different amino acid.

A point mutation that changes a codon to encode a stop codon, prematurely terminating protein synthesis.

A mutation that inserts or deletes a nucleotide, causing a shift in the reading frame and altering all subsequent codons.

A point mutation that changes a codon but still encodes the same amino acid.

A genetic disorder caused by a missense mutation in the HBB gene, leading to abnormal hemoglobin and red blood cells.

A specific missense mutation in the beta-globin gene, substituting glutamic acid (Glu) with valine (Val), causing sickle cell anemia.

Individuals carrying one normal and one sickle cell allele, exhibiting sickle cell trait and partial protection against malaria.

Individuals carrying two sickle cell alleles, fully expressing sickle cell anemia.

Mutations that don't directly alter protein sequence but can affect how genes are transcribed or translated.

A genetic disorder where red blood cells are spherical instead of biconcave, making them fragile and prone to breaking down.

A protein found in red blood cells that helps maintain their shape and flexibility. Mutations in spectrin can cause Hereditary Spherocytosis.

A protein that connects spectrin to the cell membrane, crucial for maintaining the cell's structure. Mutations in ankyrin can lead to Hereditary spherocytosis.

Symptoms include anemia (low red blood cells), fatigue, jaundice (yellowing of the skin and eyes), and splenomegaly (enlarged spleen).

A group of inherited disorders causing blistering of the skin, often severe and painful, resulting from defects in skin proteins.

Epidermolysis Bullosa Simplex (EB simplex) and Junctional EB (JEB). EB simplex affects the outer layer of skin, while JEB affects the junction between skin layers.

A group of inherited diseases characterized by progressive muscle weakness and degeneration, leading to difficulties with movement and eventually muscle breakdown.

The most common type of muscular dystrophy, caused by a mutation in the dystrophin gene, leading to severe muscle weakness.

The double-layered membrane that surrounds the nucleus of a cell, controlling what goes in and out.

The outer membrane and the inner membrane. The outer membrane is connected to the endoplasmic reticulum, while the inner membrane supports the nuclear lamina.

A type of muscular dystrophy caused by mutations in genes for emerin or lamin proteins, affecting the nuclear envelope and leading to muscle weakness.

A rare genetic disorder causing premature aging, caused by mutations in the LMNA gene that encodes for lamin proteins.

Both Progeria and EDMD affect lamin proteins but in different ways. Progeria causes premature aging due to abnormal lamin A processing, while EDMD affects muscle function.

A network of membranes throughout the cytoplasm of a cell, involved in protein synthesis, lipid synthesis, and detoxification.

Rough ER (RER) and Smooth ER (SER). RER is studded with ribosomes and involved in protein synthesis, while SER is involved in lipid synthesis and detoxification.