SNP Shot: Genomic Insights

Aceruloplasminemia is a condition characterized by the progressive buildup of iron in the brain and other organs. This iron overload in the brain leads to neurological issues that typically manifest in adulthood and progressively worsen.

Individuals with aceruloplasminemia often experience various movement disorders. These can include dystonia, which causes involuntary muscle contractions, particularly in the head and neck, leading to repetitive movements and distorted postures. Other involuntary movements, such as tremors (rhythmic shaking), chorea (jerking movements), blepharospasm (eyelid twitching), and grimacing, may also occur. Coordination difficulties (ataxia) are also common. Some individuals may develop psychiatric symptoms and a decline in cognitive function (dementia), usually starting in their 40s or 50s.

Besides neurological issues, those affected may develop diabetes mellitus. This is caused by iron-induced damage to insulin-producing cells in the pancreas. Insulin is crucial for regulating blood sugar (glucose) levels. The iron accumulation impairs the pancreas's ability to produce insulin, disrupting blood glucose control and causing diabetes symptoms.

While iron accumulates in tissues and organs, there is a corresponding iron deficiency in the bloodstream. This iron shortage leads to anemia, a condition where the body lacks sufficient red blood cells. Anemia and diabetes typically appear by the time a person with aceruloplasminemia reaches their twenties.

Excess iron in the retina, the light-sensitive tissue at the back of the eye, also causes changes. These changes result in small opaque spots and tissue degeneration (atrophy) around the edges of the retina. Although these abnormalities usually do not impair vision, they can be detected during an eye exam.

The specific symptoms and their severity can vary in aceruloplasminemia, even among members of the same family.

Inheritance:

Aceruloplasminemia 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. Parents who each carry one copy of the mutated gene are typically unaffected and show no symptoms.