O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Gato Mucopolissacaridose Vii Variante 1 (MPSVII1)
Mucopolysaccharidosis VII Variant 1 (MPSVII1) is a rare genetic disorder affecting cats, caused by a deficiency in the enzyme beta-glucuronidase. This DNA test helps identify carriers and affected cats, enabling responsible breeding decisions to prevent the spread of MPSVII1. Early detection through genetic testing is crucial for managing the health and well-being of cats at risk. By screening for MPSVII1, breeders and veterinarians can reduce the incidence of this debilitating condition. The MPSVII1 DNA test is a valuable tool in feline genetic health programs. Ensure your cat’s health by opting for this precise and reliable genetic screening. Protect future generations with MPSVII1 DNA testing today.
Abreviatura: MPSVII1
Mutação analisada: GUSB c.1051G>A
Herança: Autossômico Recessivo
Acrônimo
MPSVII1
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Metabólicas
Mutação analisada
GUSB c.1051G>A
p.(E351K)
p.(E351K)
Modo de herança
Autossômico Recessivo
Resumo do teste:
Mucopolysaccharidosis VII Variant 1 (MPSVII1) is a rare genetic disorder in cats caused by a deficiency of the enzyme beta-glucuronidase. This leads to the accumulation of complex sugars in cells, resulting in progressive tissue damage. DNA testing can identify carriers and affected cats, helping breeders avoid passing the condition to offspring. Early diagnosis through genetic screening is crucial for managing the disease. Understanding MPSVII1 supports better health and breeding decisions in feline populations.
Disponível no pacote: Basic
Este teste de DNA está incluído a partir do nosso pacote Basic - e também faz parte dos packs Basic, Standard, Advanced, Complete.
Ver pacotes de teste de DNA →Escolha o pack que melhor se adapta à sua estratégia de criação ou saúde dos seus animais.
Understanding Mucopolysaccharidosis VII Variant 1 (MPSVII1) in Cats
Mucopolysaccharidosis VII (MPS VII) is a rare lysosomal storage disorder caused by a deficiency of the enzyme beta-glucuronidase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues, resulting in a range of clinical symptoms. MPS VII is one of several types of mucopolysaccharidosis, each associated with a specific enzyme deficiency and corresponding clinical manifestation.
Sinais e Sintomas Clínicos
The clinical presentation of MPSVII1 in cats can vary significantly, but common symptoms include skeletal abnormalities, joint stiffness, and neurological issues. Affected cats may exhibit signs of pain, reduced mobility, and difficulty in engaging in normal activities such as jumping or climbing. Other symptoms may include growth retardation, thickened skin, and facial dysmorphism, which can become more pronounced as the cat ages.
Diagnosis of MPSVII1
Diagnosis of MPSVII1 typically involves a combination of clinical evaluation and laboratory testing. While physical examination can reveal symptoms suggestive of the disorder, definitive diagnosis often requires biochemical assays to measure enzyme activity levels or molecular genetic testing to identify mutations in the GUSB gene, which is responsible for producing the beta-glucuronidase enzyme.
Pathophysiology of MPSVII1
The pathophysiology of MPSVII1 is rooted in the accumulation of undegraded GAGs due to the lack of functional beta-glucuronidase. This accumulation disrupts normal cellular functions, leading to cellular toxicity and organ dysfunction. The severity of MPSVII1 is influenced by the specific mutation in the GUSB gene, with some mutations resulting in a more severe phenotype than others. The progressive nature of the disease means that affected cats may experience worsening symptoms over time, necessitating ongoing veterinary care and management.
Opções de manejo e tratamento
Currently, there is no cure for MPSVII1, but management strategies can help alleviate symptoms and improve quality of life. Supportive care may include pain management, physical therapy, and nutritional support. In some cases, enzyme replacement therapy has shown promise in managing symptoms and slowing disease progression, although it may not be widely available for all cats. Regular veterinary check-ups are essential for monitoring the health and well-being of affected cats.
Conclusão
Mucopolysaccharidosis VII Variant 1 is a serious genetic condition in cats that can lead to significant health challenges. Early detection through DNA testing can aid in managing the condition more effectively. While there is no cure, understanding the disease and its implications can help owners make informed decisions about the care and treatment of affected cats.
Raça reconhecida para o teste: Mucopolissacaridose Vii Variante 1 (MPSVII1)
- Abyssinian
- Aegean
- Alpine Lynx
- Altai
- American Bobtail
- American Bobtail Longhair
- American Bobtail Shorthair
- American Burmese
- American Curl
- American Curl Longhair
- American Curl Shorthair
- American Fold Longhair
- American Fold Shorthair
- American Keuda
- American Longhair
- American Lynx
- American Miniature Cat
- American Polydactyl
- American Ringtail
- American Shorthair
- American Straight Long Hair
- American Straight Shorthair
- American Wirehair
- Anatoli
- Aphrodite
- Aphrodite Giant
- Aphrodite's Giant Longhair
- Aphrodite's Giant Shorthair
- Arabian Mau
- Asian
- Asian Leopard Cat
- Asian Longhair
- Asian Semi-longhair
- Asian Shorthair
- Australian Bombay
- Australian Mist
- Aztec
- Balinese
- Bambino
- Bambino Curl
- BamBob
- Bengal
- Bengal Longhair
- Birman
- Bobcat
- Bohemian Rex
- Bombay
- Bramble
- Brazilian Shorthair
- Bristol
- British Ice Longhair
- British Ice Shorthair
- British Longhair
- British Shorthair
- Burmese
- Burmese European
- Burmese Longhair
- Burmilla
- Burmilla Longhair
- Burmilla Shorthair
- California Spangled
- California Toyger
- Californian Rex
- Canadian Feral Cat
- Canadian Sphynx
- Caracal
- Celtic
- Celtic Shorthair
- Ceylon
- Chantilly-Tiffany
- Chartreux
- Chausie
- Chinchilla Longhair
- Chinese Harlequin
- Chinese Li Hua
- Chinese Tank Cat
- Classicat
- Colorpoint Shorthair
- Companion Cat
- Copper
- Cornish Rex
- Cornish Rex Longhair
- Curly Tail Cat
- Cymric
- Cyprus
- Desert Lynx
- Deutsch Langhaar
- Devon Rex
- Domestic Longhair
- Domestic medium-haired
- Domestic Shorthair
- Don Sphynx
- Donskoy
- Dossow
- Dragon Li
- Dwelf
- Egyptian Mau
- Elf
- European
- European Burmese
- European Shorthair
- Exotic
- Exotic Shorthair
- Experimental
- Fishing Cat
- Foldex
- Foreign White
- Foreign White Longhair
- Foreign White Shorthair
- Gao Taem
- Genetta
- Geoffroy's Cat
- German Longhair
- German Rex
- Havana
- Havana Brown
- Hemingway Curl
- Hibernian Lynx
- Highland Fold
- Highland Lynx
- Highland Straight
- Highlander
- Highlander Longhair
- Highlander Shorthair
- Himalayan
- House Cat Longhair
- House Cat Shorthair
- Household Pet
- Household Pet Kitten
- Household Pet Longhair
- Household Pet Shorthair
- Isle of Man Longhair
- Isle of Man Shorthair
- Jaguarette
- Jaguarundi Curl
- Japanese Bobtail
- Japanese Bobtail Longhair
- Japanese Bobtail Shorthair
- Japanese domestic
- Javanese
- Jungala
- Jungle Cat
- Jungle Curl
- Jungle Lynx
- Junglebob
- Kanaani
- Karelian Bobtail
- Karelian Bobtail Longhair
- Khao Manee
- Khaomanee
- Kinkalow
- Korat
- Korean Bobtail
- Korn Ja
- Kurilian Bobtail
- Kurilian Bobtail Longhair
- Kurilian Bobtail Shorthair
- Lambkin
- LaPerm
- LaPerm Longhair
- LaPerm Shorthair
- Lykoi
- Maine Coon
- Maine Coon Polydactyl
- Manx
- Manx Longhair
- Manx Shorthair
- Me-kong Bobtail
- Meerkat
- Mekong Bobtail
- Minskin
- Minuet
- Minuet Longhair
- Mixed Breed
- Mohave Bob
- Mojave Spotted
- Mokave Jag Cat
- Mountain Bob
- Munchkin
- Munchkin Longhair
- Napoleon
- Nebelung
- Neva Masquerade
- Niebelung
- Non Recognized Hairless
- Non Recognized Longhair
- Non Recognized Shorthair
- Norwegian Forest Cat
- Ocicat
- Ojos Azules
- Oregon Rex (extinct)
- Oriental
- Oriental Bicolor
- Oriental Longhair
- Oriental Shorthair
- Original Longhair
- Owyhee Bob
- Pantherette
- Persian
- Peterbald
- Pharaoh
- Pixiebob
- Pixiebob Longhair
- Puppykat
- Raas
- Ragamuffin
- Ragdoll
- Ruffle
- Russian
- Russian Black
- Russian Blue
- Russian Tabby
- Russian White
- Rusty Spotted Cat
- Sacred Birman
- Safari
- Sam Sawet
- Sashkin Rex
- Savannah
- Scottish Fold
- Scottish Fold Longhair
- Scottish Longhair
- Scottish Shorthair
- Scottish Straight
- Scottish Straight Longhair
- Selkirk Rex
- Selkirk Rex Longhair
- Selkirk Rex Shorthair
- Selkirk Straight
- Serengeti
- Serrade Petit
- Serval
- Siamese
- Siamese Longhair
- Siberian
- Singapura
- Skookum
- Snowbob
- Snowshoe
- Sokoke
- Somali
- Sphynx
- Suffolk
- Suphalak
- Tennessee Bobtail
- Tennessee Rex
- Thai
- Thai Blue Point
- Thai Lilac
- Thai Lilac Point
- Tiffanie
- Tigrette
- Tonkinese
- Tonkinese Longhair
- Tonkinese Shorthair
- Toybob
- Toyger
- Traditional Siamese
- Transylvanian
- Tundra
- Turkish Angora
- Turkish Van
- Turkish Vankedisi
- Ukrainian Levkoy
- Unknown
- Ural Rex
- Ural Rex Longhair
- Vienna Woods
- Viverral
- York Chocolate
🧬 Interpretation of genotypes MPSVII1
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/MPSVII1
Transportadora - Sem Risco
❌ MPSVII1/MPSVII1
Afetados - Em risco
FAQ: entendendo a interpretação
Um “transportador” é sério?
Não. O animal é geralmente saudável, mas pode transmitir a mutação ao seu descendência.
E se um animal for “afetado”?
Ele carrega duas cópias mutadas. Os sinais clínicos são esperados dependendo a doença. Não deveria ser criado.
Por que existem diferenças entre homem/mulher?
Algumas doenças estão ligadas ao sexo, pelo que a sua expressão varia dependendo do sexo do animal.
Prever descendência
N/N (nao-portador)
N/MPSVII1 (Operadora)
MPSVII1/MPSVII1 (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Mucopolysaccharidosis Vii Variant 1 (MPSVII1) in order to identify clear, carrier, or at-risk animals.
Por que testar um animal reprodutor?
Os testes de DNA ajudam os criadores a planejar acasalamentos mais seguros e a reduzir o risco de transmissão da mutação aos descendentes.
Qual é o modo de herança deste teste?
O modo de herança relatado para este teste é Autossômico Recessivo.
Qual mutação é analisada neste teste?
This test analyses the mutation GUSB c.1051G>A.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Fyfe J C, Kurzhals R L, Lassaline M E, Henthorn P S, Alur P R, Wang P, Wolfe J H, Giger U, Haskins M E, Patterson D F, Sun H, Jain S, Yuhki N. Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics. 1999 Jun 1;58(2):121-8. doi: 10.1006/geno.1999.5825.