Brianna Prashad

October 29, 2015

CELL PATHOLOGY
Mitochondrion

Cellular Structure
Location
Mitochondria is a membrane bound cellular structure
and is found in most of the eukaryotic cells.

Physical Structure

Source:BBC News: www.bbc.com

Function

It is a rod shaped structure found in both animal and

plant cells. It is a double membrane bound organelle,
with an outer and inner membrane that is made of
phospholipids and proteins. The outer membrane is
smooth and covers the organelle where as the inner
membrane has folds called cristae that aid with
cellular respiration. Because the mitochondria has a
double membrane it divides the cell into two parts
which is the inter-membrane space (between the
outer and inner membrane) and the mitochondrial
matrix(the inner membrane) which is important for
the production of Adenosine Triphosphate.
Mitochondria replicate by fission and they have their
own DNA and ribosomes.

The main function of the mitochondria is to produce energy

to the cell in the form of Adenosine Triphosphate.
(boundless.com) The helps regulate the metabolic activity
found within the cell. Overall it is the site of energy capture
and cell respiration.

Mitochondria using any oxygen available within the cell convert chemical energy
from food into an energy that is usable to the cell ( process called
phosphorylation). Not only do mitochondria convert energy for the cell but they
can also determine when a cell will die. The cell will either die from necrosis
(ordinary cell death) or apoptosis (programmed cell death when the cell is
damaged). Muscle cells in particular have a high concentration of mitochondria
that produce ATP. Your muscles need this because your body is constantly in
motion, when oxygen levels are low ATP production slows down. "The
mitochondria also carries out aerobic respiration which helps generate iron and
sulfur in the body.( newcastle-mitochondira.com)"
Advanced Placement Biology

Interesting Fact
Richard Altmann established the
mitochondria as cell organelles and
called them "bioblasts" in 1894.
Carl Benda in 1898 actually came up
with the term mitochondria.

Source:(ncbi.nlm.nih.gov/pmc/
1
articles/PMC3059936)

Brianna Prashad

October 29, 2015

Cell Pathology
Alpers-Huttenlocher Syndrome
Alpers-Huttenlocher Syndrome more commonly referred to as
Alpers' disease is a progressive neuro-developmental,
mitochondrial DNA depletion syndrome that has three main
symptoms. The three main symptoms would be psychomotor
regression also known as dementia, reoccurring seizures, and liver
disease. This happens to be an autosomal recessive disease which
is caused by a mutation in the gene for Mitochondrial DNA. This
disease is caused by mutations in the POLG (polymerase gamma)
gene, which provides instructions for making part of the protein
that functions in the mitochondria. That particular protein is
important for the process of converting energy into usable energy
that the cell can use. Most people inherit Alpers-Huttenlochers
syndrome when both copies of the gene in each cell have the
mutation. This disease can be seen in children between the ages of
2 and 4 years old, families with the known disease if possible can
have a prenatal diagnosis to see if their children will inherit the
disease. Since there is no cure or treatment for AlpersHuttenlocher Syndrome the life expectancy of an individual after
the disease becomes present can vary from 3 months to 12 years.
(ghr.nlm.nih.gov/conditon/Alpers-huttenlocher-sydrome)
(rarediseasesnetwork.org/namdc/studies/7405.htm)

Source:

geneticsburdgen564s15.weebly.com69
5 363

Images of an
18 month old
boy diagnosed
with (AHS)

*Location of POLG Gene on

Chromosome 15

Source: ghr.nlm.nih.gov

Advanced Placement Biology