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Mode of Inheritance: Autosomal dominant (incomplete penetrance). Alleles: N = Normal, HCMmc = hypertrophic cardiomyopathy-associated mutation.
Explanation of Results: Cats with N/N genotype are not predicted to be at increased risk of HCM and cannot transmit this hypertrophic cardiomyopathy-associated mutation to their offspring. Cats with N/HCMmc genotype are 1.8 times more likely to develop HCM than cats without the mutation (N/N genotype). They will transmit this hypertrophic cardiomyopathy-associated mutation to 50% of their offspring. Cats with HCMmc/HCMmc genotype are 18 times more likely to develop HCM than cats without the mutation (N/N genotype). Cats with this genotype are at highest risk for sudden cardiac death.
Cats affected by hypertrophic cardiomyopathy (HCM) are at risk of sudden cardiac death. In Maine Coon cats with two copies of the disease-associated mutation, moderate to severe cardiac disease can lead to sudden death by age 4 years or less. Cats that carry one copy of the mutation have a longer life expectancy, but may still develop HCM.
PKD-Polycystic Kidney Disease
Polycystic Kidney Disease
PKD
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Polycystic kidney disease or PKD is an inherited condition in cats that causes multiple cysts (pockets of fluid) to form in the kidneys. These cysts are present from birth. Initially they are very small but they grow larger over time and may eventually disrupt kidney function resulting in kidney failure.
Polycystic kidney disease is an inherited disease. PKD is the result of a single, autosomal dominant gene abnormality. This means that every cat with the abnormal gene will have PKD. All with the PKD gene, even those with only a few small cysts or those with no clinical signs, will still pass the genetic defect onto its kittens, even if mated with an unaffected, healthy cat. In other words, a cat only needs one of its parents to be affected with PKD in order to inherit the abnormal gene and be affected itself.
SMA – Spinal Muscular Atrophy
Spinal Muscular Atrophy
SMA
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SMA is an autosomal recessive disorder. The disease affects cats with P/P (positive / positive) genotype only. Cats with P/N (positive /negative) genotype are clinically without any symptoms.
Spinal muscular atrophy Maine Coon type is a genetic disorder of Maine Coon cats. It is a neurodegenerative disorder caused by death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age. Affected kittens develop an odd gait with a sway of the hindquarters, are usually too weak to jump and stand with the hocks nearly touching. By 5-6 months of age, severe weakness in the hindquarters is apparent and muscle mass is reduced. Affected cats are not in pain and most live very comfortably as indoor cats for many years.
PKDef – Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency
PKDef
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PK Def is an autosomal recessive disorder. The disease affects cats with P/P (positive / positive) genotype only. Cats with P/N (positive /negative) genotype are clinically without any symptoms.
Pyruvate kinase (PK) deficiency is the most frequent abnormality of glycolysis, one of the principal pathways of energy (ATP) generation in cells. In erythrocytes, glycolysis is the only pathway for ATP synthesis since mature red cells lack mitochondria. The disease manifests as a chronic, intermittent, hemolytic anemia. Typically, clinical symptoms include but are not limited to: lethargy, diarrhea, pale mucous membranes, lack of appetite, poor coat quality, weight loss, icterus and occasionally splenomegaly. Blood chemistry may reveal anemia, increased aggregated reticulocyte counts, hyperglobulinaemia, hyperbilirubinaemia, and increased liver enzymes. Severity of clinical presentation and age of onset are variable. Clinical signs can first manifest as early as six months and as late as five years.
HCM – Hypertrophic Cardiomyopathy
PKD-Polycystic Kidney Disease
SMA – Spinal Muscular Atrophy
PKDef – Pyruvate Kinase Deficiency
HCM – Hypertrophic Cardiomyopathy
Cats affected by hypertrophic cardiomyopathy (HCM) are at risk of sudden cardiac death. In Maine Coon cats with two copies of the disease-associated mutation, moderate to severe cardiac disease can lead to sudden death by age 4 years or less. Cats that carry one copy of the mutation have a longer life expectancy, but may still develop HCM.
Mode of Inheritance: Autosomal dominant (incomplete penetrance). Alleles: N = Normal, HCMmc = hypertrophic cardiomyopathy-associated mutation.
Explanation of Results: Cats with N/N genotype are not predicted to be at increased risk of HCM and cannot transmit this hypertrophic cardiomyopathy-associated mutation to their offspring.
Cats with N/HCMmc genotype are 1.8 times more likely to develop HCM than cats without the mutation (N/N genotype). They will transmit this hypertrophic cardiomyopathy-associated mutation to 50% of their offspring.
Cats with HCMmc/HCMmc genotype are 18 times more likely to develop HCM than cats without the mutation (N/N genotype). Cats with this genotype are at highest risk for sudden cardiac death.
PKD – Polycystic Kidney Disease
Polycystic kidney disease or PKD is an inherited condition in cats that causes multiple cysts (pockets of fluid) to form in the kidneys. These cysts are present from birth. Initially they are very small but they grow larger over time and may eventually disrupt kidney function resulting in kidney failure.
Polycystic kidney disease is an inherited disease. PKD is the result of a single, autosomal dominant gene abnormality. This means that every cat with the abnormal gene will have PKD. All with the PKD gene, even those with only a few small cysts or those with no clinical signs, will still pass the genetic defect onto its kittens, even if mated with an unaffected, healthy cat. In other words, a cat only needs one of its parents to be affected with PKD in order to inherit the abnormal gene and be affected itself.
PKDef – Pyruvate Kinase Deficiency
PK Def is an autosomal recessive disorder. The disease affects cats with P/P (positive / positive) genotype only. Cats with P/N (positive /negative) genotype are clinically without any symptoms.
Pyruvate kinase (PK) deficiency is the most frequent abnormality of glycolysis, one of the principal pathways of energy (ATP) generation in cells. In erythrocytes, glycolysis is the only pathway for ATP synthesis since mature red cells lack mitochondria. The disease manifests as a chronic, intermittent, hemolytic anemia. Typically, clinical symptoms include but are not limited to: lethargy, diarrhea, pale mucous membranes, lack of appetite, poor coat quality, weight loss, icterus and occasionally splenomegaly. Blood chemistry may reveal anemia, increased aggregated reticulocyte counts, hyperglobulinaemia, hyperbilirubinaemia, and increased liver enzymes. Severity of clinical presentation and age of onset are variable. Clinical signs can first manifest as early as six months and as late as five years.
SMA – Spinal Muscular Atrophy
SMA is an autosomal recessive disorder. The disease affects cats with P/P (positive / positive) genotype only. Cats with P/N (positive /negative) genotype are clinically without any symptoms.
Spinal muscular atrophy Maine Coon type is a genetic disorder of Maine Coon cats. It is a neurodegenerative disorder caused by death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age. Affected kittens develop an odd gait with a sway of the hindquarters, are usually too weak to jump and stand with the hocks nearly touching. By 5-6 months of age, severe weakness in the hindquarters is apparent and muscle mass is reduced. Affected cats are not in pain and most live very comfortably as indoor cats for many years.
