Journal of Cell Science and Mutations

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Reach Us +44-1518-081136

Short Communication - Journal of Cell Science and Mutations (2023) Volume 7, Issue 5

Mitochondrial Mutations and Cellular Energetics: Impacts on Health and Disease

Russ Scott *

Department of Genetics, Sorbonne University, France

*Corresponding Author:
Russ Scott
Department of Genetics, Sorbonne University, France

Received: 05-Sept-2023, Manuscript No. AAACSM -23-112038; Editor assigned: 06- Sept -2023, PreQC No. AAACSM -23-112038 (PQ); Reviewed:19- Sept -2023, QC No. AAACSM -23-112038; Revised:21-Sept -2023, Manuscript No. AAACSM -23-112038 (R); Published:28- Sept -2023, DOI:10.35841/aaacsm-7.5.163

Citation: Scott R. Mitochondrial Mutations and Cellular Energetics: Impacts on Health and Disease. J Cell Sci Mut. 2023;7(5):163

Visit for more related articles at Journal of Cell Science and Mutations


Mitochondria, often referred to as the "powerhouses of the cell," are essential organelles responsible for generating energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation. The mitochondrial genome, although much smaller than the nuclear genome, plays a crucial role in this process. Mitochondrial mutations that affect the integrity of these organelles or compromise their DNA can have profound implications for cellular energetics, leading to a range of health conditions and diseases [1].

Unlike the nuclear genome, which is inherited from both parents, the mitochondrial genome is inherited exclusively from the mother. It encodes essential components of the electron transport chain and ATP synthesis machinery. While the majority of cellular DNA resides in the nucleus, the mitochondrial genome is susceptible to mutations due to its proximity to reactive oxygen species generated during energy production and the lack of protective histones [2].

Mitochondria play a central role in producing ATP, the primary energy currency of cells. Mutations in the mitochondrial genome can disrupt this process, leading to reduced ATP production and inefficient energy utilization. This can have widespread effects on cellular functions, as energy is required for processes ranging from metabolism and growth to signaling and maintaining membrane potentials [3].

Mitochondrial mutations can give rise to a group of disorders known as mitochondrial diseases. These conditions can affect various organs and systems, particularly those with high energy demands, such as the brain, muscles, and heart. Symptoms can vary widely and may include muscle weakness, neurological deficits, developmental delays, and metabolic abnormalities. Mitochondrial diseases often exhibit a complex inheritance pattern due to the interplay between mitochondrial and nuclear genomes [4].

As cells age, the accumulation of mitochondrial mutations can contribute to cellular dysfunction and aging. Mitochondrial dysfunction has been implicated in age-related diseases, such as neurodegenerative disorders like Parkinson's and Alzheimer's disease. Moreover, mitochondrial mutations have been linked to metabolic disorders, including diabetes and obesity, as impaired cellular energetics can disrupt metabolic homeostasis. Mitochondrial mutations can also influence cancer development. Some mutations provide a survival advantage to cancer cells by altering their energy metabolism and promoting cell proliferation [5].


Mitochondrial mutations wield significant influence over cellular energetics, impacting health and disease. The intricate connection between mitochondrial DNA, energy production, and cellular functions underscores the importance of unraveling the molecular underpinnings of these mutations. As we continue to delve into the complexities of mitochondria and their role in various conditions, insights gained from these studies could potentially pave the way for innovative interventions and therapeutic strategies aimed at restoring cellular energetics and improving overall health.


  1. Morella IM, Brambilla R, Morè L. Emerging roles of brain metabolism in cognitive impairment and neuropsychiatric disorders. Neuro Biobehav Rev. 2022:104892.
  2. Indexed at, Google Scholar, Cross Ref

  3. >Kembro JM, Cortassa S, Lloyd D,. Mitochondrial chaotic dynamics: Redox-energetic behavior at the edge of stability. Sci rep. 2018;8(1):15422.
  4. Indexed at, Google Scholar, Cross Ref

  5. Picard M, McManus MJ. Mitochondrial functions modulate neuroendocrine, metabolic, inflammatory, and transcriptional responses to acute psychological stress. Pro Nat Acad Sci. 2015;112(48):E6614-23.
  6. Indexed at, Google Scholar, Cross Ref

  7. Perciballi E, Bovio F. Characterization of the p. L145F and p. S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients. Antioxidants. 2022;11(5):815.
  8. Indexed at, Google Scholar, Cross Ref

  9. Gerou M, Hall B, Woof R. Amyotrophic lateral sclerosis alters the metabolic aging profile in patient derived fibroblasts. Neur Aging. 2021;105:64-77.
  10. Indexed at, Google Scholar, Cross Ref

Get the App