MITOCHONDRIAL DISEASES

What are mitochondrial diseases?

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

THE SCOPE OF THE TEST – 37 genes mtDNA

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 and procedure

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.

MEDICAL DOCUMENTS

Supporting documents for MITOCHONDRIAL DISEASES

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