Podcast
Questions and Answers
A patient with familial goiter can be treated with the missing hormone ______.
A patient with familial goiter can be treated with the missing hormone ______.
L-thyroxine
Krabbe's disease is due to the lack of the enzyme ______.
Krabbe's disease is due to the lack of the enzyme ______.
Beta-galactosidase
An example of an autosomal recessive disorder is ______.
An example of an autosomal recessive disorder is ______.
Cystic fibrosis
Cancerous cells exhibit characteristics such as uncontrolled growth and invasion of ______ tissues.
Cancerous cells exhibit characteristics such as uncontrolled growth and invasion of ______ tissues.
A genetic marker for ______ disease has been found on chromosome 21.
A genetic marker for ______ disease has been found on chromosome 21.
Wilson's disease is caused by the body's failure to eliminate ______ ions due to lack of enzyme ceruloplasmin.
Wilson's disease is caused by the body's failure to eliminate ______ ions due to lack of enzyme ceruloplasmin.
Albinism is caused by the lack of enzyme ______, which is necessary for the formation of melanin.
Albinism is caused by the lack of enzyme ______, which is necessary for the formation of melanin.
Hemophilia is caused by a missing protein called an ______, which is important for normal blood clotting.
Hemophilia is caused by a missing protein called an ______, which is important for normal blood clotting.
Muscular dystrophy primarily affects ______ and causes progressive weakness and wasting of muscles.
Muscular dystrophy primarily affects ______ and causes progressive weakness and wasting of muscles.
Niemann-Pick Disease is caused by a lack of enzyme ______, which leads to the accumulation of sphingomyelin.
Niemann-Pick Disease is caused by a lack of enzyme ______, which leads to the accumulation of sphingomyelin.
Tay Sach's disease is due to a lack of enzyme ______ leading to the accumulation of glycolipid in the brain.
Tay Sach's disease is due to a lack of enzyme ______ leading to the accumulation of glycolipid in the brain.
Sickle cell anemia is an inherited blood disorder where red blood cells become ______ shaped.
Sickle cell anemia is an inherited blood disorder where red blood cells become ______ shaped.
Phenylketonuria results when the enzyme ______ is absent, leading to the accumulation of phenylalanine.
Phenylketonuria results when the enzyme ______ is absent, leading to the accumulation of phenylalanine.
Flashcards are hidden until you start studying
Study Notes
Genetic Diseases
- Genetic diseases are caused by defective genes leading to the loss of enzyme activity.
- Wilson's disease results from the body's inability to eliminate copper ions due to a lack of ceruloplasmin.
- Albinism occurs due to the absence of tyrosinase, the enzyme required for melanin production.
- Hemophilia is caused by a missing protein, antihemophilic globulin, crucial for blood clotting.
- Muscular dystrophy is characterized by a lack of dystrophin, a protein, leading to muscle weakness and wasting, primarily affecting boys.
- Niemann-Pick disease is caused by a deficiency in sphingomyelinase, leading to the accumulation of sphingomyelin in various organs, affecting brain function and causing mental retardation.
- Gaucher's disease results from a lack of glucocerebrosidase, causing an accumulation of glycolipid in the liver and spleen.
- Tay-Sachs disease is characterized by the absence of hexosaminidase A, leading to glycolipid buildup in the brain and eyes, causing muscular weakness and retinal abnormalities.
- Lou Gehrig's disease (ALS) involves the degeneration of motor neurons in the brain and spinal cord.
- Sickle cell anemia is an inherited condition where red blood cells become sickle-shaped, leading to frequent infections, swelling, fatigue, and delayed growth.
- Phenylketonuria (PKU) is caused by a lack of the enzyme phenylalanine hydroxylase, preventing the conversion of phenylalanine to tyrosine. This leads to phenylalanine accumulation, damaging the nervous system.
- Galactosemia results from a deficiency in uridyl transferase, an enzyme crucial for converting galactose to glucose, causing galactose buildup in the blood.
- Farber's disease due to a deficiency in ceramidase, characterized by hoarseness, skin problems, skeletal degeneration, and mental retardation.
- Krabbe's disease is caused by a lack of beta-galactosidase, leading to mental retardation and a lack of myelin.
Classification of Genetic Diseases
- Chromosomal disorders involve abnormalities in chromosomes, such as excess, loss, deletion, or translocation. Examples include Down's syndrome and chronic myelogenous leukemia.
- Monogenic disorders are caused by a single mutated gene.
- Autosomal dominant: Huntington's disease is an example.
- Autosomal recessive: Cystic fibrosis is an example.
- X-linked: Hemophilia is an example.
- Multifactorial disorders involve multiple genes. Essential hypertension is an example.
Treatment of Genetic Diseases
- Supplying the missing product: For example, L-thyroxine is used to treat familial goiter.
- Replacing missing enzymes or hormones: Beta-glucosidase injections for Gaucher's disease and factor VIII injections for hemophilia are examples.
- Removing excess stored substances: Vitamin B12 is used to treat methylmalonic aciduria.
- Correcting the major genetic abnormality: Liver transplantation is used for galactosemia, primarily in advanced cases.
Genetic Markers
- Areas on chromosomes believed to be linked to certain diseases.
- A marker for Alzheimer’s disease has been located on chromosome 21.
Oncogenes
- Genes responsible for triggering uncontrollable growth, leading to cancer.
Cancerous Cells: Key Characteristics
- Uncontrolled growth: Rapid, abnormal cell division.
- Invasion of body tissues: Cells invade surrounding tissues.
- Spread to other body parts: Cancer cells metastasize to other locations.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
