Destroyers of mutant genes in mitochondria

A recipe has been developed for proteins that will destroy non-functioning mitochondrial genes in the body and make room for their healthy counterparts. This solution – it was developed by a team of Pole in Cambridge – has already been tested on mice. This is an important step toward treating an important group of metabolic diseases.

Actually, World Chor Awareness Week is celebrated every year in the third week of Septemberob Mitochondrial. – Mitochondrial diseases can have symptoms rotion. But usually it is damage to the organow, whichore need a lot of energy. Such bodies are mozganmuscle, heart or eyes – mowi in , interview with PAP by Dr. Michal Minchuk. This is a Pole thatory directs research on. treatment of diseasesob mitochondrial damage at the University . Cambridgeof

As he explains, mitochondrial diseases are associated with e.g. someore myopathies (muscle atrophy), neuropathies (neuron atrophyowbut), also hearing or vision loss and kidney and liver disease. diseases Mitochondrial are estimated to be an affliction, ktora affects perhaps as many as 1 in 5 thousand. osob.

Itins worth noting that Sometimes, however, mutations ’ mitochondrial DNA lead to defects in energy production mechanisms. Mitochondria are unique fragments of the comorki. They have their own DNA and own mechanismstheirfor producing proteins from it. whichory are the cellsorkowe power plants – in them sugar and fat are burned, Mitochondria we eat. Usuallyofone comorka can have up to hundreds or thousands mitochondrial DNA from another perspective molecules.

It is usually the case that in the comorcemitochondrialis spoiled by part of the geneoIn . The diseaseonlyusually becomes apparent when the mutation occurs in 60 percent of the. mitochondrialTheDNA of a given tissue.

In fact, Researchers from the team of Dr more than ever . Minchuk in a publication in "Nature Medicine" have demonstrated a recent way toob on how to treat such mitochondrial diseases. They developed a protein machinery thatora reaches as a matter of fact damaged genesointhethe mitochondria and destroys it. Actually, As a consequence, in the comoThe rce creates space for the comorka reconstituted fresh, fully functional , genesmitochondrialand thus defect-free mitochondria.

Indeed, – We were able to get this therapy outob to study on an animal model. Previously, scientists succeeded only in vitro, says Dr. Minchuk. As he points out, in modern times the experiments were done on mice. Mutation, whichora manifested as heart disease, the animals had in the mitochondrial genome. Such a mutation is the mouse equivalent of one of the mutations in the human mitochondrial genome. After the therapywas applied, the mice began to function efficiently.

The structure designed by the researchersowThis allows the affectedtotissue function properly. penetrated as a matter of fact into the comorec of the mouse heart, she searched and mutated mitochondrial genes for brought them to annihilation. And because the comorka maintains a constant number of DNA in the mitochondria, in fresh of the destroyed mutated copies place as it turns out – healthy ones were created.

Theforpresence in the mitochondrion of such slit DNA is comorki signal to annihilate the broken DNA fragment and replace it with a fresh, properly functioning version. Dr. He explains that in destroying mitochondrialoin participating proteins – the so-called. zinc fingersonlyequipped with protein "scissors", ktore , cut through the DNA of the damaged mitochondrion. , ActuallyMinchuk tells of a particularo³³ methods.

At the romitochondrial diseases, however, mutations in the mitochondria can be ro.ne¿ So if the therapy is ever used on humans, a probka and sequenced the mitochondrial genome to diagnose mitochondrial mutation. When you know the mutation, you can design the right zinc fingers . act like a "magnet with scissors", ktory this mutation will detect and destroythat – This is quite tough and labor-intensive, but should be possible for any mitochondrial mutation, Dr. Minchuk says. The therapy would thus be tailored to the needs of a particular patient. So far, however, studies have not been conducted on human.

This is an additional argument thatory shows that the method scientistsow from Cambridge has a lot of potential, and teams are working on it in roThe researchers in different parts of the globe. In the same issue "Nature Medicine" was published roA parallel paper by a crew from the University of Miami led by Prof. TALEN proteins. Interestingly, Carlos Moraes, demonstrating how damagedfingersmitochondrial genes can be destroyed using proteins other than zinc fingers, the so-called “zinc ”.

CC BY 4.0/ Wikimedia Commons/ Simon Troeder Sourceosource: PAP – fot in Poland, Science.