Dr Mirna Mustapha

School of Biosciences

Senior Research Fellow

Dr Mirna Mustapha
Profile picture of Dr Mirna Mustapha
mirna.m@sheffield.ac.uk
B1 224, Alfred Denny Building

Full contact details

Dr Mirna Mustapha
School of Biosciences
B1 224
Alfred Denny Building
Western Bank
Sheffield
S10 2TN
Research interests

Our lab is interested in understanding the cellular and molecular mechanisms underlying peripheral auditory neuropathy. We utilize transgenic mouse models and a variety of cutting edge molecular, microscopic, and physiological approaches to understand cochlear neurogenesis, and neuropathy associated with congenital and age-related hearing impairment.

Blindness cuts us off from things, but deafness cuts us off from people

Helen Keller

Author

Deafness is a common health problem

Hearing impairment is the most frequently occurring sensorineural defect in humans. The sense of hearing originates in the cochlea, a structure in the inner ear. Information about timing, frequency, and intensity of sounds is transmitted from the hair cells in the cochlea to the brain via spiral ganglion neurons by converting sound waves into nerve impulses.

Any disruptions in this sensory pathway could result in auditory neuropathy and hearing impairment.

Causes

Auditory neuropathy is a type of hearing impairment caused by a defect in the hair cells and/or their synapses (synaptopathy) or the spiral ganglion neurons (neuropathy). It can affect people of all ages, from birth (congenital) through adulthood (acquired or age-related).

Genetically inherited auditory neuropathy can be either isolated or associated with a systemic neurodegenerative disorder such as Charcot-Marie-Tooth disease or Friedreich’s ataxia.

Diagnosis

Auditory neuropathy can be diagnosed using hearing tests such as auditory brainstem response (ABR) and otoacoustic emissions (OAE). Auditory neuropathy is defined by an abnormal ABR reading together with a normal OAE reading.

An abnormal ABR reading can be the result of damage to the auditory nerve pathway, including the inner hair cells, their connection to the nerve (synapses), and/or the nerve itself (spiral ganglion neurons).

Why we care

Cochlear implants are currently the standard of care for hearing impairment. However, cochlear implant performance relies on healthy spiral ganglion neurons. Therefore, knowledge of the exact site of dysfunction (i.e., whether the patient suffers from synaptopathy or neuropathy) would aid in assessing the benefit of this treatment for patients.

There are currently no available clinical tests that can distinguish between cochlear synaptopathy and neuropathy, but molecular genetic diagnosis can.

Our long-term goal is to identify genes that are involved in congenital and age-related cochlear synaptopathy and/or neuropathy. Identification of these genes will improve the clinical diagnosis and our understanding of the molecular mechanisms that regulate the innervation of the cochlea and that cause cochlear neuropathy.

Publications

Show: Featured publications All publications

Journal articles

  • Grandi FC, De Tomasi L & Mustapha M (2020) . Frontiers in Molecular Neuroscience, 13.
  • Smeriglio P, Wangsawihardja FV, Leu R & Mustapha M (2019) . Neuroscience, 408, 68-80.

All publications

Journal articles

  • Underhill A, Webb S, Grandi FC, Jeng J-Y, de Monvel JB, Plion B, Carlton AJ, Amariutei AE, Voulgari N, De Faveri F , Ceriani F et al (2025) . Proceedings of the National Academy of Sciences, 122(1).
  • Chouery E, Mehawej C, Saade R, Barake R, Zarecki P, Gennery C, Corbani S, Korban R, Hamam A, Nasser Eldin J , Yamout M et al (2025) . European Journal of Human Genetics, 33(1), 121-130.
  • Conrad LJ, Grandi FC, Carlton AJ, Jeng J, de Tomasi L, Zarecki P, Marcotti W, Johnson SL & Mustapha M (2024) . The Journal of Physiology, 602(20), 5329-5351.
  • Mehawej C, Chouery E, Azar-Atallah S, Shebaby W, Delague V, Mansour I, Mustapha M, Lefranc G & Megarbane A (2024) . Clinical Immunology, 262, 109961-109961.
  • Mehawej C, Chouery E, Azar-Atallah S, Shebaby W, Delague V, Mansour I, Lefranc GL, Mustapha M & Megarbane A (2024) . Clinica Chimica Acta, 558, 118291-118291.
  • Carlton AJ, Jeng J-Y, Grandi FC, De Faveri F, Amariutei AE, De Tomasi L, O’Connor A, Johnson SL, Furness DN, Brown SDM , Ceriani F et al (2024) . Cell Reports, 43(4), 114025-114025.
  • Mehawej C, Chouery E, Azar-Atallah S, Shebaby W, Delague V, Mansour I, Mustapha M, Lefranc G & Megarbane A (2023) . Clinical Immunology, 251, 109326-109326.
  • Carlton AJ, Jeng J, Grandi FC, De Faveri F, Ceriani F, De Tomasi L, Underhill A, Johnson SL, Legan KP, Kros CJ , Richardson GP et al (2023) . The EMBO Journal, 42(4).
  • Jeng J, Johnson SL, Carlton AJ, DeTomasi L, Goodyear R, DeFaveri F, Furness DN, Wells S, Brown SDM, Holley MC , Richardson GP et al (2020) . The Journal of Physiology, 598(18), 3891-3910.
  • Grandi FC, De Tomasi L & Mustapha M (2020) . Frontiers in Molecular Neuroscience, 13.
  • Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM , Pfundt R et al (2019) . The American Journal of Human Genetics, 104(5), 914-924.
  • Smeriglio P, Wangsawihardja FV, Leu R & Mustapha M (2019) . Neuroscience, 408, 68-80.
  • Johnson SL, Safieddine S, Mustapha M & Marcotti W (2019) . Cold Spring Harbor Perspectives in Medicine, 9(12), a033175-a033175.
  • Mustapha M, Mendes D & Smerriglio P (2017) Contribution of beta1- and beta2-adrenergic receptors to cochlear function. Medical research archives, 5(9).
  • Akdagli S, Williams RA, Kim HJ, Yan Y, Mustapha M & Most SP (2016) . Plastic and Reconstructive Surgery - Global Open, 4(12), e1186-e1186.
  • Sundaresan S, Balasubbu S & Mustapha M (2016) . Neuroscience, 312, 165-178.
  • Sundaresan S, Kong J, Fang Q, Salles FT, Wangsawihardja F, Ricci AJ & Mustapha M (2016) . European Journal of Neuroscience, 43(2), 148-161.
  • Fang Q, Indzhykulian AA, Mustapha M, Riordan GP, Dolan DF, Friedman TB, Belyantseva IA, Frolenkov GI, Camper SA & Bird JE (2015) . eLife, 4(-), ---.
  • Mendus D, Rankin-Gee EK, Mustapha M & Porter BE (2015) . Neuroscience, 305, 302-308.
  • Mendus D, Sundaresan S, Grillet N, Wangsawihardja F, Leu R, Müller U, Jones SM & Mustapha M (2014) . European Journal of Neuroscience, 39(8), 1256-1267.
  • Fang Q, Giordimaina AM, Dolan DF, Camper SA & Mustapha M (2012) . Journal of the Association for Research in Otolaryngology, 13(2), 173-184.
  • Saïd MB, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G , Smith RJH et al (2010) . Genetic Testing and Molecular Biomarkers, 14(3), 307-311.
  • Mustapha M, Fang Q, Gong T-W, Dolan DF, Raphael Y, Camper SA & Duncan RK (2009) . The Journal of Neuroscience, 29(4), 1212-1223.
  • Mustapha M, Fang Q, Duncan RK, Raphael Y, Dolan DF, Giordimaina A, Gong T-W, Lomax M, Johnson KR & Camper SA (2008) . Developmental Biology, 319(2), 466-467.
  • Mustapha M, Beyer LA, Izumikawa M, Swiderski DL, Dolan DF, Raphael Y & Camper SA (2007) . Journal of the Association for Research in Otolaryngology, 8(3), 329-337.
  • Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS , Perfettini I et al (2003) . Nature Genetics, 34(4), 421-428.
  • Weil D (2003) . Human Molecular Genetics, 12(5), 463-471.
  • Denoyelle F, Mustapha M & Petit C (2002) , 153-155.
  • Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C & Mégarbané A (2002) . European Journal of Human Genetics, 10(6), 391-394.
  • Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M & Petit C (2002) . European Journal of Human Genetics, 10(3), 210-212.
  • Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB , Tekaia F et al (2002) . Proceedings of the National Academy of Sciences, 99(9), 6240-6245.
  • Mustapha M, Chouery É, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C & Weil D (2002) . Human Genetics, 110(4), 348-350.
  • Mustapha M (2001) . Journal of Medical Genetics, 38(10), 36e-36.
  • Mégarbané A, Mustapha M, Bleik J, Waked N, Delague V & Loiselet J (2000) . Clinical Genetics, 58(6), 473-478.
  • Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J & Petit C (1999) . Nature Genetics, 21(4), 363-369.
  • Mustapha M (1999) . Human Molecular Genetics, 8(3), 409-412.
  • Mustapha M, Salem N, Weil D, El-Zir E, Loiselet J & Petit C (1998) . European Journal of Human Genetics, 6(6), 548-551.
  • Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C & Slim R (1998) . Human Genetics, 103(2), 193-198.
  • Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, El-Zir E, Loiselet J & Petit C (1998) . European Journal of Human Genetics, 6(3), 245-250.
  • Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J & Slim R (1998) . Journal of Medical Genetics, 35(3), 202-204.
  • Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl H-HM, Middleton A, Houseman MJ , Dode C et al (1997) . Human Molecular Genetics, 6(12), 2173-2177.
  • Grandi FC, De Tomasi L & Mustapha M () . Frontiers in Molecular Neuroscience, 14.
  • Heimsath EG, Yim Y-I, Mustapha M, Hammer JA & Cheney RE () . Scientific Reports, 7(1).
  • Calton MA, Lee D, Sundaresan S, Mendus D, Leu R, Wangsawihardja F, Johnson KR & Mustapha M () . PLoS ONE, 9(5), e94549-e94549.

Conference proceedings

  • Swiderski DL, Mustapha M & Gong T-W (2007) . Genome Biology, Vol. 8(9) (pp 315-315)

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