Co znamená „Vymazat“?
Zvíře mutaci nenese. Nemoc se u něj nerozvine a nepřenese to dál.
Kočka Gangliosidóza Gm2 u japonských domácích (GM2-JD)
Gangliosidosis GM2 in Japanese Domestic cats is a rare genetic disorder affecting the nervous system. This inherited condition leads to the accumulation of GM2 gangliosides, causing progressive neurological symptoms. A DNA test for Gangliosidosis GM2 helps breeders and cat owners identify carriers and affected cats early. Early diagnosis through genetic testing is crucial for managing the health and wellbeing of Japanese Domestic cats. By using a reliable DNA test, breeders can make informed decisions to prevent the spread of this debilitating disease. Protect your Japanese Domestic cat’s future with accurate Gangliosidosis GM2 DNA testing. Ensure a healthy lineage by screening for this genetic disorder today.
zkratka: GM2-JD
Analyzovaná mutace: HEXB c.667C>T
dědičnost: Autozomálně recesivní
Akronym
GM2-JD
Pozorovaná frekvence
Klinická závažnost
Klinická klasifikace
Metabolické choroby
Analyzovaná mutace
HEXB c.667C>T
p.(R223*)
p.(R223*)
Způsob dědičnosti
Autozomálně recesivní
Shrnutí testu:
Gangliosidosis GM2 is a genetic disorder found in Japanese Domestic cats, caused by a deficiency in the enzyme responsible for breaking down GM2 gangliosides. A DNA test can identify carriers and affected cats by detecting mutations in the HEXA or HEXB genes. Early diagnosis through genetic testing helps breeders prevent the spread of this fatal disease. Affected cats typically show neurological symptoms such as weakness and loss of coordination. Responsible breeding practices rely on DNA testing to maintain the health of the Japanese Domestic cat population.
Dostupné z balení: Basic
Tento test DNA je součástí balení od našeho balíčku Basic — a je také součástí balení Basic, Standard, Advanced, Complete.
Zobrazit balíčky testů DNA →Vyberte si balení, které nejlépe vyhovuje vaší chovatelské nebo zdravotní strategii vašich zvířat.
Understanding Gangliosidosis GM2 in Cats
Gangliosidosis GM2 is a genetic disorder that primarily affects the nervous system of cats. It is caused by a deficiency in the enzyme Hexosaminidase A (Hex-A), which is essential for the breakdown of certain lipids known as gangliosides. When this enzyme is deficient, gangliosides accumulate in the brain and other tissues, leading to progressive neurological dysfunction.
Clinical Signs of GM2 Gangliosidosis
Cats affected by GM2 gangliosidosis typically present a range of clinical signs that can vary in severity. Common symptoms include progressive weakness, lack of coordination, behavioral changes, and seizures. These symptoms usually manifest in young cats, often before they reach one year of age. As the condition progresses, affected cats may experience difficulty with movement, an inability to walk, and a decline in overall health.
Pathophysiology of GM2 Gangliosidosis
The pathophysiology of GM2 gangliosidosis is rooted in the accumulation of gangliosides due to the malfunction of the Hex-A enzyme. This accumulation leads to toxic effects on neuronal cells, resulting in cellular damage and death. Over time, the degeneration of nerve cells manifests as the neurological symptoms observed in affected cats. The condition is classified as a lysosomal storage disorder, highlighting the role of lysosomes in cellular waste management and the consequences of their dysfunction.
Genetic Basis of GM2 Gangliosidosis
GM2 gangliosidosis is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene—one from each parent—to develop the disease. The specific gene associated with this condition is located on chromosome 16 in cats. Genetic mutations that lead to the loss of Hex-A enzyme activity are responsible for the clinical manifestations of the disorder. Understanding the genetic foundation of GM2 gangliosidosis is critical for breeding programs aimed at reducing the incidence of this disease.
Diagnosis of GM2 Gangliosidosis
Diagnosis of GM2 gangliosidosis typically involves a combination of clinical evaluation and genetic testing. Veterinarians may suspect the condition based on clinical signs and a thorough neurological examination. However, definitive diagnosis often requires DNA testing to identify mutations in the gene responsible for the disorder. Early diagnosis is crucial for managing the condition and making informed decisions regarding the care of affected cats.
Management and Prognosis
Currently, there is no cure for GM2 gangliosidosis, and management focuses on supportive care to improve the quality of life for affected cats. This may include pain management, nutritional support, and environmental modifications to accommodate mobility challenges. The prognosis for cats with GM2 gangliosidosis is generally poor, with affected individuals often requiring humane euthanasia as the disease progresses. Awareness of this condition is essential for cat owners and breeders to make informed decisions regarding breeding practices and the health of their feline companions.
Plemeno uznané pro zkoušku: Gangliosidóza Gm2 u japonských domácích (GM2-JD)
- Japanese domestic
🧬 Interpretation of genotypes GM2-JD
Genotyp
Postavení
🟡 N/N
Nepřenašeč – žádné riziko
🟡 N/GM2-JD
Přepravce – žádné riziko
❌ GM2-JD/GM2-JD
Postižené – v ohrožení
FAQ: porozumění výkladu
Myslí to „přepravce“ vážně?
Ne. Zvíře je obecně zdravé, ale může na něj přenést mutaci potomstvo.
Co když je zvíře „postiženo“?
Nese dvě mutované kopie. Klinické příznaky se očekávají v závislosti na nemoc. Nemělo by se chovat.
Proč jsou rozdíly mezi muži a ženami?
Některé nemoci jsou vázané na pohlaví, takže jejich projev se liší v závislosti na pohlaví zvířete.
Předpovědět potomstvo
N/N (neprenasec)
N/GM2-JD (Dopravce)
GM2-JD/GM2-JD (Postižený)
Časté dotazy k testu DNA
Co tento test DNA odhalí?
This DNA test detects the mutation associated with Gangliosidosis Gm2 In Japanese Domestic (GM2-JD) in order to identify clear, carrier, or at-risk animals.
Proč testovat chovné zvíře?
Testování DNA pomáhá chovatelům plánovat bezpečnější páření a snížit riziko přenosu mutace na potomky.
Jaký je režim dědičnosti tohoto testu?
Režim dědičnosti hlášený pro tento test je autosomálně recesivní.
Která mutace je v tomto testu analyzována?
This test analyses the mutation HEXB c.667C>T.
Je nutně postiženo zvíře-přenašeč?
Ne nutně. Interpretace závisí na vzoru dědičnosti a výsledném genotypu.
Reference
Kanae Y, Endoh D, Yamato O, Hayashi D, Matsunaga S, Ogawa H, Maede Y, Hayashi M. Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Res Vet Sci. 2007 Feb;82(1):54-60. doi: 10.1016/j.rvsc.2006.05.007. Epub 2006 Jul 26.