Case Study: Defective Cellular Organelles

This flashcard set covers the vocabulary and concepts from the 'Defective Cellular Organelles' case study, including the details of Leigh Syndrome, cellular organelle functions, and related genetic disorders.

Failure to thrive

A condition where a child is not meeting developmental milestones, often caused by inadequate calorie intake or undernourishment.

Nicole's clinical indicators

Symptoms including feeding problems, weight loss, loss of appetite, vomiting, and irritability, followed by an MRI showing elevated plasma lactate, pyruvate levels, and symmetric lesions in the basal ganglia and brain stem.

Leigh Syndrome (LS)

A mitochondrial disorder often associated with a nuclear mutation in the $SURF1$ gene that affects energy production in all organs.

SURF1 gene

A gene that, when mutated, affects cellular organelles responsible for energy production, leading to Leigh Syndrome.

Leigh Syndrome prevalence

A condition affecting approximately $1$ in $36,000$ to $40,000$ newborns.

Leigh Syndrome life expectancy

On average, an infant diagnosed with this condition has an expected life span of about $3.5$ years.

Autosomal recessive inheritance

The inheritance pattern for Leigh Syndrome where two carrier parents have a $25\%$ (1 in 4) chance of having an affected child and a $50\%$ (1 in 2) chance of having a carrier child.

Carrier

An individual who has one normal allele and one mutated allele but does not exhibit the symptoms of the disease.

Nucleus

The organelle that directs the cell's activities; analogous to a control center or boss.

Nucleolus

Specific part of the nucleus that produces ribosomes; analogous to a personnel department.

Cytoplasm

The material where cell activities occur and where organelles are contained; analogous to a factory floor.

Rough ER

Organelle responsible for protein synthesis and protein folding; analogous to an assembly line.

Smooth ER

Organelle responsible for lipid synthesis; analogous to a chemical production department.

Ribosomes

Structures that synthesize proteins; analogous to factory workers or machines.

Golgi Apparatus

Organelle that modifies, sorts, and packages proteins; analogous to a packaging and shipping department.

Vesicles

Structures that transport materials around the cell; analogous to delivery trucks.

Peroxisomes

Organelles that break down fats and toxic substances; analogous to a hazardous waste cleanup crew.

Mitochondria

The organelle that produces $ATP$ (energy) and is known as the powerhouse or generator of the cell.

Cell Membrane

Organelle that controls what enters and leaves the cell; analogous to a security gate.

Thiamine (Vitamin B1)

The primary treatment supplement used for patients with Leigh Syndrome.

Cystic Fibrosis

A disease involving the cell membrane's regulation of materials, resulting in thick mucus in the lungs and digestive problems.

ALD (Adrenoleukodystrophy)

A condition caused by defective peroxisomes leading to a build-up of fatty acids in the brain and spinal cord, causing lethargy and loss of limb control.

Pompe Disease

A disorder where macromolecules (glycogen) fail to break down within muscle cells due to lysosome dysfunction, causing muscle weakness.

Kartagener Syndrome

A condition affecting the cilia (microtubules/cytoskeleton) that results in breathing problems, chronic infections, and infertility.