CATECHIZE: Mitochondrial Diseases their Types, Diagnosis & Treatment (In Pictures)

Mitochondrial Diseases their Types, Diagnosis & Treatment (In Pictures)

Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells. Mitochondria convert the energy of food molecules into the ATP that powers most cell functions.

Mitochondrial diseases are sometimes (about 15% of the time) caused by the mitochondrial DNA that affect mitochondrial function. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often called a mitochondrial myopathy.

Examples of Mitochorndrial Diseases

Diabetes mellitus and deafness (DAD)

· This combination at an early age can be due to mitochondrial disease

· Diabetes mellitus and deafness can also be found together for other reasons

Leber's hereditary optic neuropathy (LHON)

· visual loss beginning in young adulthood

· eye disorder characterized by progressive loss of central vision due to degeneration of the optic nerves and retina

Wolff-Parkinson-White syndrome

· Multiple sclerosis-type disease

· Affects 1 in 50,000 people in Finland

Leigh syndrome, subacute sclerosing encephalopathy

· After normal development the disease usually begins late in the first year of life, although onset may occur in adulthood

· A rapid decline in function occurs and is marked by seizures, altered states of consciousness, dementia, ventilatory failure

Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP)

· progressive symptoms as described in the acronym

· dementia

Myoneurogenic gastrointestinal encephalopathy (MNGIE)

· Gastrointestinal pseudo-obstruction

· Neuropathy

Myoclonic Epilepsy with Ragged Red Fibers (MERRF)

· Progressive myoclonic epilepsy

· "Ragged Red Fibers" – clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "Ragged Red Fibers" when muscle is stained with modified Gömöri trichrome stain

· Short stature

· Hearing loss

· Lactic acidosis

· exercise intolerance

Mitochondrial myopathy, encephalomyopathy, lactic acidosis, stroke-like symptoms (MELAS)

· mtDNA depletion

· mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)