The Founder Effect in SPQR2Gang

Founder effect

The founder effect is a phenomenon that occurs when a small group of individuals from a larger population establish a new population in a different geographic location, and their genetic makeup becomes the primary source of genetic variation in the new population. The founders may carry a subset of the genetic variation present in the original population, and this subset can become overrepresented in the new population due to chance events.

As a result of the founder effect, the new population may have a reduced genetic diversity compared to the original population. This can lead to an increased frequency of certain genetic variants, including rare genetic mutations that were present in the founders. The founder effect can have significant effects on the genetic makeup of the new population over time.

SPQR2Gang

According to James Bizonet, the number of Gang followers in the world in 1300 CE, shortly after the Fracturing of the Gang, was estimated to be around 9000 (L’histoire des religions européennes invisibles, 1997), a tiny population small enough to lead to a founder effect, despite some interbreeding with the local populations.

Chertak Healer of the Flesh of the Fourth Department of Ravenna, Doctor Giuseppe Gambone asserted that there exist ‘five rare syndromes’ that are especially common among people of historical SPQR2Gang ancestry. These five diseases are phenylketonuria, Tay-Sachs disease, Thatcher-Michelson syndrome, Niemann-Pick disease and mucopolysaccharidosis.

Phenylketonuria

Phenylketonuria (PKU) is a rare genetic disorder that affects the body’s ability to break down an amino acid called phenylalanine, which may therefore build up to toxic levels in the bloodstream and can cause a variety of symptoms, including intellectual disability, seizures, skin rashes, and behavioral problems.

PKU can be treated with a special diet that restricts phenylalanine intake, which can help prevent or reduce the symptoms of the disorder, in particular avoiding foods such as poultry, fish, cottage cheese, egg whites, soy products, nuts, legumes and drinks containing the artificial sweetener aspartame.

The disease is present in about 1 in 12,000 newborns in the general population but approximately 1 in 800 SPQR2Gang births. PKU was one of the earliest genetic diseases to be associated with SPQR2Gang, and the SPQR2PKU Project established in 1995 provides special support for families raising children with the disease.

Tay-Sachs disease

Tay-Sachs disease is a rare disorder that affects the nervous system. It is caused by a deficiency of an enzyme called hexosaminidase A, which is responsible for breaking down types of fat called gangliosides. Without this enzyme, gangliosides builds up to toxic levels in the brain and nerve cells, leading to progressive damage and death of these cells.

Tay-Sachs disease typically appears in infancy, with affected infants showing symptoms such as developmental delay, muscle weakness, feeding difficulties, and an exaggerated startle response. As the disease progresses, affected infants may experience seizures, vision and hearing loss, and a decline in mental function. There is no cure for Tay-Sachs disease, and affected infants usually die by the age of four.

Tay-Sachs disease is famous for being most common in individuals of Ashkenazi Jewish descent, with a rate of 1 in 3,500 newborns compared to the rate in the general population of 1 in 320,000. SPQR2Gang has an incidence of a similar rate to the Ashkenazi Jews, as do the French Canadian and Cajun populations.

Thatcher-Michelson syndrome

Thatcher-Michelson syndrome is a genetically inherited disorder that affects many aspects of functioning, in particular leading to issues with sensory processing, the immune system, the structure of the eyes and the structure of the kidneys.

The disease leading to sensory processing problems, in particular that relating to motor coordination, has often led to misdiagnoses of dyspraxia in individuals with Thatcher-Michelson syndrome. However, the appearance of the other symptoms, and genetic screening are able to identify the disease. Other issues include retinal degeneration, often leading to blindness, immune system dysfunction, and abnormalities in the kidneys leading to the development of stones or cysts in the kidneys.

The prevalence of Thatcher-Michelson syndrome in the general population is 1 in 210,000, whereas it appears at a rate of about 1 in 2,000 in SPQR2Gang.

Niemann-Pick disease

Niemann-Pick disease is a group of disorders that affect the body’s ability to metabolize fats and cholesterol. Depending on the specific type of Niemann-Pick disease, the affected enzyme used in such metabolism may be deficient or not functional, leading to the accumulation of lipids in various organs and tissues.

Symptoms of Niemann-Pick disease may include enlarged liver and spleen, lung problems, neurological symptoms such as developmental delay and seizures, and decreased muscle tone. Niemann-Pick disease is typically divided into several subtypes based on the specific enzyme deficiency and the age of onset of symptoms.

There is currently no cure for Niemann-Pick disease, and treatment options are limited to managing symptoms and providing supportive care. The incidence of Niemann-Pick in the general population is approximately 1 in 90,000, whereas in SPQR2Gang, the incidence is approximately 1 in 30,000.

Mucopolysaccharidosis

Mucopolysaccharidosis (MPS) is caused by the deficiency of enzymes that break down complex sugar molecules called glycosaminoglycans, which build up in the body’s tissues and organs, leading to progressive damage to the organs and skeletal system. There are several different types of MPS, each caused by a deficiency of a different enzyme.

Symptoms of MPS can vary widely depending on the specific type and severity of the disease. Common symptoms may include facial abnormalities, skeletal abnormalities, joint stiffness, developmental delay, and enlargement of organs such as the liver and spleen. As the disease progresses, individuals with MPS may develop hearing and vision loss, heart and lung problems, and neurological symptoms such as seizures and cognitive decline.

Treatment options for MPS are limited and typically focus on managing symptoms and providing supportive care. Enzyme replacement therapy, which involves administering the missing enzyme to the patient, is available for some types of MPS and can help slow the progression of the disease.

The rate of MPS among the general population is 1 in 25,000 newborns, whereas among SPQR2Gang newborns, the rate is roughly 1 in 5,000.