What does mitofusin 2 do?

Mitofusin-2 (MFN2) is a mitochondrial membrane protein that plays a central role in regulating mitochondrial fusion and cell metabolism.

What causes Charcot Marie Tooth disease?

What causes CMT? CMT is caused by an inherited fault in one of the many genes responsible for the development of the peripheral nerves. This fault means the nerves become damaged over time. A child with CMT may have inherited the genetic fault responsible for the condition from 1 or both of their parents.

What is the role of OPA1 Mgm1 and Drp1 Dnm1 in apoptosis?

Up-and-down regulation of mitofusins, OPA1/Mgm1, and Drp1/Dnm1 cumulatively dictate the balance between mitochondrial fusion and division in different cell contexts. For example, mitochondria break into smaller pieces early in programmed cell death (apoptosis).

What is mitofusin1?

Mitofusin-1 and -2 (Mfn1 and Mfn2) are GTPase homologous proteins, principally localized at the OMM, where they mediate the mitochondria fusion process (Ishihara, Eura, & Mihara, 2004). However, they also have an important role in shaping the ER-mitochondria interface.

When does mitochondrial fusion occur?

Fission begins when the endoplasmic reticulum (ER) is recruited to the constriction site, marked by mtDNA. Next, multiple OMM-bound proteins (FIS1, MFF, MiD49 and MiD51) recruit DRP1 to the surface of the mitochondria, aiding in ER-mediated constriction. Table 1.

What causes mitochondria to fuse?

The mechanisms of mitochondrial fusion and fission are regulated by proteolysis and posttranslational modifications. The actions of fission, fusion and motility cause the shapes of these double membrane bound subcellular organelles we know as mitochondria to continually change.

What is the PINK1 gene?

PINK1 Gene – PTEN Induced Kinase 1 This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease.

Why is mitochondrial fusion good?

By enabling genetic complementation, fusion of the mitochondria allows for two mitochondrial genomes with different defects within the same organelle to individually encode what the other lacks. In doing so, these mitochondrial genomes generate all of the necessary components for a functional mitochondrion.

What does mitochondrial fusion do?

Mitochondria are dynamic organelles with the ability to fuse and divide (fission), forming constantly changing tubular networks in most eukaryotic cells. These mitochondrial dynamics, first observed over a hundred years ago are important for the health of the cell, and defects in dynamics lead to genetic disorders.

Who is most likely to get Charcot-Marie-Tooth disease?

Their children have a 25 percent chance of inheriting the disease. Autosomal disorders, both dominant and recessive, affect males and females equally. Other types of CMT are inherited in an X-linked fashion, meaning they are dependent on the chromosomes that determine a person’s sex.

Is mitochondrial fusion good?

These mitochondrial dynamics, first observed over a hundred years ago are important for the health of the cell, and defects in dynamics lead to genetic disorders. Through fusion, mitochondria can overcome the dangerous consequences of genetic malfunction.

What is Parkin and PINK1?

PTEN-induced kinase 1 (PINK1) and Parkin RBR E3 ubiquitin-protein ligase (PARKIN) signalling play a key role in mitophagy and mitochondrial motility and size. PINK1 accumulates at the OMM in response to a reduction in mitochondrial ΔΨm caused by damage/dysfunction.

What does PINK1 protein do?

PINK1 is a mitochondrially targeted serine/threonine kinase which has been shown to protect cells against oxidative stress induced apoptosis. Mutations associated with PD are located throughout the PINK1 protein but the majority are found within the kinase domain.