What is a fault Gene?
A change in a gene is called a ‘fault’ or ‘mutation’. These faults can make a cell stop working properly. It may then become cancerous and divide and grow uncontrollably. Most gene changes happen during our lifetime but some can be inherited from a parent.
What age does hereditary spastic paraplegia start?
Symptoms of HSP may begin at any age, from infancy to older than 60 years. If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses insidiously over many years.
Why is Katanin important?
Role in cell division It has been shown that katanin is responsible for severing microtubules during M-phase in Xenopus laevis. The disassembly of microtubules from their interphase structures is necessary to prepare the cell and the mitotic spindle for cell division.
Does hereditary spastic paraplegia get worse?
Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. It’s also known as familial spastic paraparesis or Strümpell-Lorrain syndrome.
What does hereditary spastic paraplegia feel like?
The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis.
Is Katanin a microtubule associated protein?
Katanin, a Microtubule-Severing Protein, Is a Novel AAA ATPase that Targets to the Centrosome Using a WD40-Containing Subunit: Cell.
What happens when microtubules are severed?
By severing a microtubule, a new plus end and minus end are created and the subunits near the newly formed ends are predominantly in the GDP form. According to the GTP-cap model, both new microtubules are highly likely to depolymerize from their newly created ends.
What happens if you cut a microtubule?
Disruption of microtubule-severing enzymes leads to multiple, seemingly contradictory phenotypes: destruction, production, and disorganization of cellular microtubules.