No products in the cart.
Mitochondrial diseases are hereditary chronic diseases, which are normally inherited syndromes that occur when mitochondria do not produce enough ATP for cells. Mitochondrial disease affects mainly energy-consuming organs such as the liver, kidneys, pancreas, brain, digestive system, eyes, inner ear, muscles, and blood cells.
Cause of mitochondrial diseases
Mitochondrial disease can be caused by genetic changes in the nucleus or in the mitochondrial genes.
Types of inheritance
If caused by a mutation in the nuclear DNA, the disease would be inherited according to the rules of monogenic disease (dominant, recessive, sex-linked and so on).
If caused by a mutation in the mitochondrial DNA, the disease would be inherited according to the following rule:
• Affected father: 100% unaffected children
• Affected mother: 100% affected children
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY.
Test participants
• Paediatric patients/patients with suspected mitochondrial disease:
– Kearns-Sayre syndrome (KSS)
– Chronic progressive external ophthalmoplegia (CPEO),
– Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
– Myoclonic epilepsy with ragged-red fibers (MERRF) Neurogenic weakness with ataxia and retinitis pigmentosa (NARP)
– Leigh syndrome (LS)
• Mitochondrial dysfunction should be considered in the differential diagnosis of any progressive multiorgan (three or more organs) disorder/disease, both in children and adults, because mitochondrial disorders can appear at any age.
Testing procedure
Analysis of mitochondrial genes can be performed first, and if no mutations are found, further sequencing of the genes in the nucleus (WES or CES-G4500) can be performed, or vice versa.
Theo đuổi hành trình sự sống, chúng tôi tin rằng những thông tin di truyền từ gen có thể mở ra chân trời hiểu biết mới về bệnh học, hỗ trợ đắc lực cho bác sĩ điều trị lâm sàng trước những ca bệnh phức tạp.
Hơn cả một xét nghiệm, chúng tôi có đội ngũ bác sĩ và chuyên gia di truyền luôn đồng hành trước và sau xét nghiệm; tư vấn kết quả dễ hiểu, tận tình, trách nhiệm, hỗ trợ bác sĩ điều trị tiếp cận các chiến lược tầm soát và can thiệp phù hợp với từng kiểu đột biến gen.
Copyright © 2020 GENE SOLUTIONS
Legal Representative: Nguyễn Hữu Nguyên
Enterprise No. 0314215140 – HCMC D.P.I issued on January 23, 2017
Tư vấn di truyền
GET MEDICAL CONSULTATION FROM DOCTORS
