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Jun 18
2021

Research Bit: Localization and function of C9orf72 in mitochondria

Research Bits
The Packard Center welcomed Jiou Wang, PhD from the Johns Hopkins University to a recent Investigator's meeting.

Date: June 18, 2021

Presenter: Jiou Wang, PhD

Talk Title: Localization and function of C9orf72 in mitochondria

What was the question being asked?

Mutations in the C9orf72 gene represent the most common genetic cause of ALS. These mutations not only lead to the production of unconventional toxic RNAs and proteins but can also decrease C9orf72 expression itself. However, little is known regarding the normal function of C9orf72 protein. The Wang lab seeks to understand the function of C9orf72 protein and how decreased protein expression may lead to neuronal dysfunction in ALS.

Why is this important for ALS research?

In order to understand how the molecular consequences of ALS associated mutations give rise to cellular dysfunction and ultimately neuronal death, we must first understand the normal biological functions of such disease associated proteins. A comprehensive understanding of disease biology and pathology is highly dependent on a thorough understanding of normal cellular biology and physiology.

What was the question being asked?

Mutations in the C9orf72 gene represent the most common genetic cause of ALS. These mutations not only lead to the production of unconventional toxic RNAs and proteins but can also decrease C9orf72 expression itself. However, little is known regarding the normal function of C9orf72 protein. The Wang lab seeks to understand the function of C9orf72 protein and how decreased protein expression may lead to neuronal dysfunction in ALS.

Why is this important for ALS research?

In order to understand how the molecular consequences of ALS associated mutations give rise to cellular dysfunction and ultimately neuronal death, we must first understand the normal biological functions of such disease associated proteins. A comprehensive understanding of disease biology and pathology is highly dependent on a thorough understanding of normal cellular biology and physiology.

What was the take-home message?

The C9orf72 protein can be found within the mitochondria, the powerhouse and energy supplier of the cell. Via protein – protein interactions, the Wang lab has found that mitochondrial localization of C9orf72 protein helps to maintain proper production of energy sources for cells. In the context of the C9orf72 mutation, mitochondrial function is reduced.

How do you think the results of this study might impact future approaches to the treatment of ALS?

The work in the Wang lab identifies a novel biological role for C9orf72 protein in maintaining cellular energy levels. In the context of disease, this work suggests that energy production may be reduced. Thus, this research suggests that therapeutic strategies aimed at maintaining production of crucial cellular sources of energy may prove beneficial for ALS.

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