MonogenErkrankungen

MonogenErkrankungen, also known as single-gene disorders, are hereditary diseases caused by a mutation in a single gene. These genes can be located on any of the chromosomes, including the sex chromosomes. The inheritance pattern of these disorders can be autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive.

Autosomal dominant disorders manifest when only one copy of the mutated gene is inherited from one parent. Examples include Huntington's disease and Marfan syndrome. Autosomal recessive disorders require inheritance of two copies of the mutated gene, one from each parent. Cystic fibrosis and sickle cell anemia are common examples. X-linked disorders are linked to genes on the X chromosome. In X-linked recessive disorders, males are more frequently affected because they have only one X chromosome. Hemophilia and Duchenne muscular dystrophy are well-known X-linked recessive conditions.

Diagnosis of MonogenErkrankungen typically involves genetic testing, which can identify the specific gene mutation. Family history is also crucial in identifying potential carriers and affected individuals. Genetic counseling is an important component of managing these conditions, providing information about inheritance patterns, risks, and reproductive options. While many MonogenErkrankungen currently lack a cure, treatments focus on managing symptoms and improving quality of life. Advances in gene therapy and personalized medicine offer hope for future treatment strategies.