SNP Shot: Genomic Insights

Primary coenzyme Q10 deficiency is a disorder impacting various organs, notably the brain, muscles, and kidneys. As the name suggests, this condition arises from an insufficient amount of coenzyme Q10 in the body.

The severity, specific symptoms, and age of onset of primary coenzyme Q10 deficiency can vary significantly. In severe instances, the condition manifests in infancy, leading to serious brain dysfunction coupled with muscle weakness (encephalomyopathy) and failure of multiple organ systems. These complications can be life-threatening. In milder cases, the condition may appear as late as a person's sixties, often causing cerebellar ataxia. Cerebellar ataxia is characterized by impaired coordination and balance due to problems in the cerebellum, the brain region responsible for coordinating movement. Other potential neurological issues associated with coenzyme Q10 deficiency include seizures, intellectual disability, poor muscle tone (hypotonia), involuntary muscle contractions (dystonia), progressive muscle stiffness (spasticity), abnormal eye movements (nystagmus), vision loss due to optic nerve degeneration (atrophy) or light-sensing tissue breakdown in the retina (retinopathy), and sensorineural hearing loss (resulting from inner ear abnormalities). Without coenzyme Q10 supplementation, these neurological problems progressively worsen.

Nephrotic syndrome, a type of kidney dysfunction, is another common feature of primary coenzyme Q10 deficiency. It can occur with or without neurological symptoms. Nephrotic syndrome results from kidney damage that impairs their ability to function correctly, leading to protein leakage from the blood into the urine (proteinuria). Other signs of nephrotic syndrome include elevated blood cholesterol (hypercholesterolemia), fluid accumulation in the abdominal cavity (ascites), and swelling (edema). Affected individuals might also have blood in their urine (hematuria), potentially leading to anemia (a reduced number of red blood cells), abnormal blood clotting, or reduced levels of specific white blood cells. Low white blood cell counts can compromise the immune system, leading to frequent infections. Without coenzyme Q10 supplementation, individuals with nephrotic syndrome will eventually experience irreversible kidney failure (end-stage renal disease).

Hypertrophic cardiomyopathy, a heart condition involving enlargement and weakening of the heart muscle, can also occur in primary coenzyme Q10 deficiency.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. While parents carry one copy of the mutated gene, they usually do not exhibit any signs or symptoms of the disorder.