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Martin-Bell Syndrome: The Weakness of the X Chromosome
The fragile X syndrome, also known as Martin-Bell syndrome, is a hereditary disorder associated with the vulnerability of the X chromosome. This condition is the second most common cause of congenital intellectual disability, following Down syndrome. Among affected individuals, the prevalence of the disorder is more common in boys, but it can also manifest in girls, albeit in a different form. Research has provided a precise understanding of the genetic background of the disorder. A repeating amino acid sequence on the X chromosome typically occurs a maximum of 31 times. However, if this repetition exceeds a critical number, the chromosome becomes unstable, leading to the development of fragile X syndrome.…
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The Role of Down Syndrome in the Fight Against Cancer
The world of scientific research is constantly producing new discoveries that lead to a better understanding and treatment of various diseases. Cancer, as one of the most complex and widespread diseases, has always been at the center of attention. A particularly interesting question is why certain individuals, such as those with Down syndrome, suffer less frequently from certain cancers. Down syndrome is characterized by an extra copy of chromosome 21, which exerts various genetic effects on the body. Recent research has highlighted that the unique genes on chromosome 21 may provide potential protection against certain cancers. Discoveries by scientists could open new directions in cancer treatments and offer hope to…
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Gene Therapy – Can It Save Children Living with SMA?
The spinal muscular atrophy (SMA) is a rare genetic disease that can severely affect the quality of life of children. The disease primarily involves damage to the motor neurons in the spinal cord, leading to muscle weakness and even muscle atrophy. This process hinders the normal development of movement and, in severe cases, can cause respiratory muscle failure, necessitating mechanical respiratory support. Early diagnosis of SMA is crucial, as timely initiation of treatment can result in significant improvements in the quality of life for young patients. Until now, the disease has been virtually untreatable, with the worst cases not allowing children to survive past their first year. However, the latest…
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Signs and Possible Consequences of Marfan Syndrome – Illustrated Summary
Marfan syndrome is a hereditary condition that involves abnormal development of connective tissues. This disorder can affect various organ systems, including the cardiovascular system, the skeleton, and the eyes. The disease is named after French pediatrician Antoine Marfan, who first described the symptoms in a young girl, which included long limbs and joint laxity. Diagnosing Marfan syndrome is not always straightforward, as the symptoms can vary widely and are not always clear-cut. Symptoms of the disease may present at birth, but diagnosis can often be delayed until cardiac or ophthalmic abnormalities become apparent. Early detection and appropriate medical treatment are essential to prevent complications. The quality of life for individuals…
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Sickle Cell Anemia
Sickle cell anemia is a hereditary blood disorder that arises due to a defect in hemoglobin. The disease is caused by a genetic mutation that leads to changes in the hemoglobin molecules of red blood cells. This pathological condition is most commonly found among Mediterranean and African populations, but it can also be present in other regions. Sickle cell anemia is the most common of the hemoglobinopathies, with the abnormal hemoglobin, known as HbS, replacing normal hemoglobin in the body. The inheritance of the disease is autosomal recessive, meaning that sickle cell anemia develops only in individuals who inherit the abnormal gene from both parents. Those who inherit the defective…
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Abdominal pain, limb discomfort, and confusion – Have you heard of porphyria?
Porphyria is a rare, inherited disease characterized by disturbances in the formation of hemoglobin, the blood pigment. The name of the disease derives from the Greek word “porphyreos,” which refers to the purplish-red urine that is one of its most characteristic symptoms. In Hungary, approximately 150 people live with a porphyria diagnosis, but this number is likely higher as the disease often remains hidden. There are two main types of porphyrias: acute and chronic forms, which present with different clinical manifestations. Characteristics of Porphyria Porphyria involves a dysfunction in the enzymes necessary for the production of hemoglobin, leading to the accumulation of porphyrins and their precursors in the body, which…
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Denys-Drash syndrome
The Denys-Drash syndrome is a rare but serious genetic condition that can lead to several significant health problems. The disease typically involves kidney dysfunction, childhood kidney tumors, and developmental abnormalities of the genitalia. The underlying cause of these disorders is a mutation in the WT1 gene, which plays a key role in the development of the kidneys and genitalia. The consequences of the syndrome begin in childhood, but the long-term effects can present significant challenges for patients and their families. For children living with Denys-Drash syndrome, the disease is often diagnosed in the early years, when kidney dysfunction becomes apparent. Due to the complexity of the syndrome, it is important…
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Von Willebrand disease
The von Willebrand syndrome is an inherited bleeding disorder that is one of the most common forms of hemophilia. Its prevalence affects about 1 in 100 people on average; however, in many cases, the symptoms are mild, and therefore many individuals are unaware of their condition. This means that the actual incidence of the disease is likely higher than what diagnoses indicate. There are different forms of von Willebrand syndrome, some of which are inherited, while others are associated with acquired conditions. This disease affects both men and women, as it can present regardless of gender. The von Willebrand factor, which plays a key role in the blood coagulation process,…
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Color Vision Disorders: Color Blindness and Color Deficiency
The human vision is a wonderful and complex process that allows us to perceive the colors and shapes of the world. However, not everyone experiences color vision in the same way. Color blindness and color vision deficiency are conditions that affect the perception of colors, and while many are aware of their existence, few know the details. Color vision deficiency and color blindness can affect people to varying degrees, and estimates suggest that a significant portion of the population, particularly men, may experience these disorders. The perception of colors is based on the functioning of receptors in the retina of the eye, known as cones and rods. Cones are responsible…
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Marble Bone Disease: Symptoms and Treatment Options for Osteopetrosis
The marble bone disease, also known as osteopetrosis, is an extremely rare and unique genetic condition characterized by the pathological thickening of bones. The essence of the disease is that the mineral content of bone tissue, particularly calcium, significantly increases, causing the bones to appear white like marble on X-rays. The underlying cause of this condition is a decrease in the number or dysfunction of bone-resorbing cells, namely osteoclasts. The appearance and course of this disease have often sparked scientific interest, but descriptions made for the sake of popularization often contain exaggerations. Writings and films about marble bone disease frequently fail to convey the true severity and consequences of the…
